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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: 3-43549802-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=43549802&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 43549802,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000292246.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_018075.5",
"protein_id": "NP_060545.3",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": "ENST00000292246.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000292246.8",
"protein_id": "ENSP00000292246.3",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": "NM_018075.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1145C>A",
"hgvs_p": "p.Ala382Glu",
"transcript": "ENST00000350459.8",
"protein_id": "ENSP00000327767.4",
"transcript_support_level": 1,
"aa_start": 382,
"aa_end": null,
"aa_length": 470,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346464.2",
"protein_id": "NP_001333393.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346467.2",
"protein_id": "NP_001333396.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 699,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "NM_001346463.2",
"protein_id": "NP_001333392.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 660,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_001346468.2",
"protein_id": "NP_001333397.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 660,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_001204831.3",
"protein_id": "NP_001191760.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 627,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "ENST00000414522.6",
"protein_id": "ENSP00000396990.2",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 627,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1715C>A",
"hgvs_p": "p.Ala572Glu",
"transcript": "NM_001346465.2",
"protein_id": "NP_001333394.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 621,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ala506Glu",
"transcript": "NM_001204832.3",
"protein_id": "NP_001191761.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 594,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ala506Glu",
"transcript": "NM_001346466.2",
"protein_id": "NP_001333395.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 594,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ala506Glu",
"transcript": "NM_001346469.2",
"protein_id": "NP_001333398.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 594,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Ala506Glu",
"transcript": "ENST00000396091.7",
"protein_id": "ENSP00000379398.3",
"transcript_support_level": 2,
"aa_start": 506,
"aa_end": null,
"aa_length": 594,
"cds_start": 1517,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1382C>A",
"hgvs_p": "p.Ala461Glu",
"transcript": "NM_001204833.3",
"protein_id": "NP_001191762.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 549,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1382C>A",
"hgvs_p": "p.Ala461Glu",
"transcript": "ENST00000451430.6",
"protein_id": "ENSP00000394119.2",
"transcript_support_level": 2,
"aa_start": 461,
"aa_end": null,
"aa_length": 549,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1145C>A",
"hgvs_p": "p.Ala382Glu",
"transcript": "NM_001204834.3",
"protein_id": "NP_001191763.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 470,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.296C>A",
"hgvs_p": "p.Ala99Glu",
"transcript": "ENST00000448045.1",
"protein_id": "ENSP00000412997.1",
"transcript_support_level": 3,
"aa_start": 99,
"aa_end": null,
"aa_length": 187,
"cds_start": 296,
"cds_end": null,
"cds_length": 564,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "XM_011533885.4",
"protein_id": "XP_011532187.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 678,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "XM_047448428.1",
"protein_id": "XP_047304384.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 673,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "XM_024453616.2",
"protein_id": "XP_024309384.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 663,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "XM_011533889.4",
"protein_id": "XP_011532191.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 645,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 2116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANO10",
"gene_hgnc_id": 25519,
"hgvs_c": "c.1832C>A",
"hgvs_p": "p.Ala611Glu",
"transcript": "XM_011533890.4",
"protein_id": "XP_011532192.1",
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{
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"transcript": "XM_047448435.1",
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}
],
"gene_symbol": "ANO10",
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"dbsnp": "rs759026322",
"frequency_reference_population": 0.000008675704,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000821001,
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"computational_score_selected": 0.8270547389984131,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000292246.8",
"gene_symbol": "ANO10",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}