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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: 16-4726711-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4726711&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4726711,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000304283.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "NM_133450.4",
"protein_id": "NP_597707.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 656,
"cds_start": 439,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": "ENST00000304283.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "ENST00000304283.9",
"protein_id": "ENSP00000304586.4",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 656,
"cds_start": 439,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 843,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": "NM_133450.4",
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.1170C>A",
"hgvs_p": null,
"transcript": "ENST00000591653.5",
"protein_id": null,
"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": 3098,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000592077.5",
"protein_id": "ENSP00000465203.1",
"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": 2302,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000592077.5",
"protein_id": "ENSP00000465203.1",
"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": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "ENST00000614075.4",
"protein_id": "ENSP00000480350.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 656,
"cds_start": 439,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.220C>A",
"hgvs_p": "p.His74Asn",
"transcript": "ENST00000585773.5",
"protein_id": "ENSP00000465294.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 583,
"cds_start": 220,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.52C>A",
"hgvs_p": "p.His18Asn",
"transcript": "NM_001308089.2",
"protein_id": "NP_001295018.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 527,
"cds_start": 52,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 426,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.52C>A",
"hgvs_p": "p.His18Asn",
"transcript": "ENST00000446014.6",
"protein_id": "ENSP00000406796.2",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 527,
"cds_start": 52,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "ENST00000590147.5",
"protein_id": "ENSP00000468380.1",
"transcript_support_level": 5,
"aa_start": 147,
"aa_end": null,
"aa_length": 165,
"cds_start": 439,
"cds_end": null,
"cds_length": 498,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "ENST00000592190.1",
"protein_id": "ENSP00000465566.1",
"transcript_support_level": 3,
"aa_start": 147,
"aa_end": null,
"aa_length": 162,
"cds_start": 439,
"cds_end": null,
"cds_length": 491,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.475C>A",
"hgvs_p": "p.His159Asn",
"transcript": "XM_011522372.2",
"protein_id": "XP_011520674.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 668,
"cds_start": 475,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.His147Asn",
"transcript": "XM_011522373.2",
"protein_id": "XP_011520675.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 656,
"cds_start": 439,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 557,
"cdna_end": null,
"cdna_length": 2486,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000586159.5",
"protein_id": "ENSP00000465454.1",
"transcript_support_level": 3,
"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": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000587005.5",
"protein_id": "ENSP00000465361.1",
"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": 566,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.335C>A",
"hgvs_p": null,
"transcript": "ENST00000590803.5",
"protein_id": null,
"transcript_support_level": 2,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000591281.5",
"protein_id": "ENSP00000467474.1",
"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": 540,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.631C>A",
"hgvs_p": null,
"transcript": "NR_040252.2",
"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": 2560,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-427C>A",
"hgvs_p": null,
"transcript": "NM_001324130.2",
"protein_id": "NP_001311059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"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": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-180C>A",
"hgvs_p": null,
"transcript": "ENST00000592698.5",
"protein_id": "ENSP00000467783.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 107,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1128,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000586159.5",
"protein_id": "ENSP00000465454.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000587005.5",
"protein_id": "ENSP00000465361.1",
"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": 566,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.*54C>A",
"hgvs_p": null,
"transcript": "ENST00000591281.5",
"protein_id": "ENSP00000467474.1",
"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,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
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}