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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-55161694-G-GGCGTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55161694&ref=G&alt=GGCGTC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55161694,
"ref": "G",
"alt": "GGCGTC",
"effect": "frameshift_variant",
"transcript": "ENST00000524407.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.607_611dupGACGC",
"hgvs_p": "p.Arg205fs",
"transcript": "NM_001256715.2",
"protein_id": "NP_001243644.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 541,
"cds_start": 611,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": "ENST00000524407.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.607_611dupGACGC",
"hgvs_p": "p.Arg205fs",
"transcript": "ENST00000524407.7",
"protein_id": "ENSP00000432046.3",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 541,
"cds_start": 611,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": "NM_001256715.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.445_449dupGACGC",
"hgvs_p": "p.Arg151fs",
"transcript": "ENST00000455045.5",
"protein_id": "ENSP00000394343.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.*395_*399dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000528412.5",
"protein_id": "ENSP00000433826.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.*395_*399dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000528412.5",
"protein_id": "ENSP00000433826.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.811_815dupGACGC",
"hgvs_p": "p.Arg273fs",
"transcript": "NM_001256714.1",
"protein_id": "NP_001243643.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 608,
"cds_start": 815,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.811_815dupGACGC",
"hgvs_p": "p.Arg273fs",
"transcript": "ENST00000527223.6",
"protein_id": "ENSP00000436975.2",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 608,
"cds_start": 815,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.748_752dupGACGC",
"hgvs_p": "p.Arg252fs",
"transcript": "NM_178837.4",
"protein_id": "NP_849159.2",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 588,
"cds_start": 752,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.748_752dupGACGC",
"hgvs_p": "p.Arg252fs",
"transcript": "ENST00000391720.8",
"protein_id": "ENSP00000375600.5",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 588,
"cds_start": 752,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AT?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "c.445_449dupGACGC",
"hgvs_p": "p.Arg151fs",
"transcript": "NM_001256716.2",
"protein_id": "NP_001243645.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 487,
"cds_start": 449,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.344_348dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000526959.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.456_460dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000527166.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.369_373dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000533527.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"hgvs_c": "n.318+434_318+438dupGACGC",
"hgvs_p": null,
"transcript": "ENST00000527292.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.1136+482_1136+486dupCGTCG",
"hgvs_p": null,
"transcript": "ENST00000591665.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.354+482_354+486dupCGTCG",
"hgvs_p": null,
"transcript": "ENST00000805275.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.339+482_339+486dupCGTCG",
"hgvs_p": null,
"transcript": "ENST00000805276.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.169+482_169+486dupCGTCG",
"hgvs_p": null,
"transcript": "ENST00000805277.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.306+482_306+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_001754014.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.257+482_257+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_001754015.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.306+482_306+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_007067343.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.306+482_306+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_007067344.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.306+482_306+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_007067345.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNAAF3-AS1",
"gene_hgnc_id": 55292,
"hgvs_c": "n.269+482_269+486dupCGTCG",
"hgvs_p": null,
"transcript": "XR_936074.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAAF3",
"gene_hgnc_id": 30492,
"dbsnp": "rs1060502831",
"frequency_reference_population": 0.0000021604494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000216045,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.404,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000524407.7",
"gene_symbol": "DNAAF3",
"hgnc_id": 30492,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.607_611dupGACGC",
"hgvs_p": "p.Arg205fs"
},
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000591665.1",
"gene_symbol": "DNAAF3-AS1",
"hgnc_id": 55292,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1136+482_1136+486dupCGTCG",
"hgvs_p": null
}
],
"clinvar_disease": "Primary ciliary dyskinesia,Primary ciliary dyskinesia 2",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Primary ciliary dyskinesia|Primary ciliary dyskinesia 2",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}