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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: 2-46941673-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=46941673&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 46941673,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000319190.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_020458.4",
"protein_id": "NP_065191.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 858,
"cds_start": 132,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000319190.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000319190.11",
"protein_id": "ENSP00000316699.5",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 858,
"cds_start": 132,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_020458.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000394850.6",
"protein_id": "ENSP00000378320.2",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 882,
"cds_start": 132,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.129C>T",
"hgvs_p": null,
"transcript": "ENST00000441914.5",
"protein_id": "ENSP00000393022.1",
"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": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_001288951.2",
"protein_id": "NP_001275880.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 882,
"cds_start": 132,
"cds_end": null,
"cds_length": 2649,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 5167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_017004524.2",
"protein_id": "XP_016860013.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 819,
"cds_start": 132,
"cds_end": null,
"cds_length": 2460,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_017004526.2",
"protein_id": "XP_016860015.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 775,
"cds_start": 132,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_047445146.1",
"protein_id": "XP_047301102.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 736,
"cds_start": 132,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_011532999.3",
"protein_id": "XP_011531301.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 681,
"cds_start": 132,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_047445147.1",
"protein_id": "XP_047301103.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 632,
"cds_start": 132,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_047445149.1",
"protein_id": "XP_047301105.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 620,
"cds_start": 132,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "XM_047445150.1",
"protein_id": "XP_047301106.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 466,
"cds_start": 132,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.132C>T",
"hgvs_p": null,
"transcript": "ENST00000461601.5",
"protein_id": "ENSP00000513496.1",
"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": 2204,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "n.101G>A",
"hgvs_p": null,
"transcript": "ENST00000470873.1",
"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,
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"cdna_length": 552,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "n.42G>A",
"hgvs_p": null,
"transcript": "ENST00000479225.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 568,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "n.55G>A",
"hgvs_p": null,
"transcript": "ENST00000487121.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "n.450C>T",
"hgvs_p": null,
"transcript": "XR_007078570.1",
"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,
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"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC7A",
"gene_hgnc_id": 19750,
"hgvs_c": "c.-773C>T",
"hgvs_p": null,
"transcript": "NM_001288955.2",
"protein_id": "NP_001275884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.-108G>A",
"hgvs_p": null,
"transcript": "NM_001171508.2",
"protein_id": "NP_001164979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.-108G>A",
"hgvs_p": null,
"transcript": "ENST00000409207.5",
"protein_id": "ENSP00000386386.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": -4,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1113,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.-10G>A",
"hgvs_p": null,
"transcript": "NM_001171511.3",
"protein_id": "NP_001164982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.-10G>A",
"hgvs_p": null,
"transcript": "ENST00000444761.6",
"protein_id": "ENSP00000394647.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": -4,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCFD2",
"gene_hgnc_id": 18451,
"hgvs_c": "c.-109G>A",
"hgvs_p": null,
"transcript": "ENST00000409147.1",
"protein_id": "ENSP00000387082.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": -4,
"cds_end": null,
"cds_length": 285,
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}
],
"gene_symbol": "TTC7A",
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": -0.3100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.605,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"acmg_score": -3,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -3,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000319190.11",
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"effects": [
"synonymous_variant"
],
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{
"score": -2,
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"criteria": [
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"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000479225.1",
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],
"clinvar_disease": "Multiple gastrointestinal atresias",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Multiple gastrointestinal atresias",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}