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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: 14-20693626-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20693626&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20693626,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001145.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001097577.3",
"protein_id": "NP_001091046.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397990.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001097577.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000397990.5",
"protein_id": "ENSP00000381077.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001097577.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397990.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000336811.10",
"protein_id": "ENSP00000336762.6",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336811.10"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259171",
"gene_hgnc_id": null,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000553909.1",
"protein_id": "ENSP00000477037.1",
"transcript_support_level": 2,
"aa_start": 21,
"aa_end": null,
"aa_length": 31,
"cds_start": 62,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5729C>A",
"hgvs_p": null,
"transcript": "NM_002937.5",
"protein_id": "NP_002928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000555835.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5729C>A",
"hgvs_p": null,
"transcript": "ENST00000555835.3",
"protein_id": "ENSP00000452245.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": null,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002937.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555835.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001145.4",
"protein_id": "NP_001136.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145.4"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001385271.1",
"protein_id": "NP_001372200.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385271.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001385272.1",
"protein_id": "NP_001372201.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385272.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001385273.1",
"protein_id": "NP_001372202.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385273.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "NM_001385274.1",
"protein_id": "NP_001372203.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385274.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885598.1",
"protein_id": "ENSP00000555657.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885598.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885600.1",
"protein_id": "ENSP00000555659.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885600.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885601.1",
"protein_id": "ENSP00000555660.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885601.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885603.1",
"protein_id": "ENSP00000555662.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885603.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885605.1",
"protein_id": "ENSP00000555664.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885605.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885606.1",
"protein_id": "ENSP00000555665.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885606.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885607.1",
"protein_id": "ENSP00000555666.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885607.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885608.1",
"protein_id": "ENSP00000555667.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885608.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885609.1",
"protein_id": "ENSP00000555668.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885609.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885610.1",
"protein_id": "ENSP00000555669.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885610.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.62C>A",
"hgvs_p": "p.Pro21Gln",
"transcript": "ENST00000885611.1",
"protein_id": "ENSP00000555670.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 147,
"cds_start": 62,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885611.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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],
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"bayesdelnoaf_score": -0.01,
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"acmg_by_gene": [
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"criteria": [
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"BP6_Very_Strong",
"BS2"
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"inheritance_mode": "AD",
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{
"score": -10,
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"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "ENST00000553909.1",
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"effects": [
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"inheritance_mode": "",
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{
"score": -10,
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"criteria": [
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"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "NM_001282192.2",
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"effects": [
"5_prime_UTR_variant"
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"inheritance_mode": "AR",
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},
{
"score": -10,
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"criteria": [
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"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "NR_174964.1",
"gene_symbol": "EGILA",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "n.590G>T",
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},
{
"score": -10,
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"criteria": [
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"BP6_Very_Strong"
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"verdict": "Benign",
"transcript": "ENST00000796740.1",
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"effects": [
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],
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],
"clinvar_disease": "Amyotrophic lateral sclerosis type 9,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 9|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}