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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: 8-132622662-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=132622662&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 132622662,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012472.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "NM_012472.6",
"protein_id": "NP_036604.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 466,
"cds_start": 863,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620350.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012472.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000620350.5",
"protein_id": "ENSP00000484634.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 466,
"cds_start": 863,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012472.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620350.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000519595.5",
"protein_id": "ENSP00000429791.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 466,
"cds_start": 863,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519595.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000250173.5",
"protein_id": "ENSP00000250173.2",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 411,
"cds_start": 863,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250173.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000518642.5",
"protein_id": "ENSP00000428610.1",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 411,
"cds_start": 863,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518642.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000869719.1",
"protein_id": "ENSP00000539778.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 492,
"cds_start": 863,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869719.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000940685.1",
"protein_id": "ENSP00000610744.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 465,
"cds_start": 863,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940685.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "NM_001321961.2",
"protein_id": "NP_001308890.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 446,
"cds_start": 863,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321961.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000869720.1",
"protein_id": "ENSP00000539779.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 446,
"cds_start": 863,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869720.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.863C>G",
"hgvs_p": "p.Pro288Arg",
"transcript": "ENST00000940684.1",
"protein_id": "ENSP00000610743.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 445,
"cds_start": 863,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940684.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Pro206Arg",
"transcript": "NM_001321962.2",
"protein_id": "NP_001308891.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 384,
"cds_start": 617,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321962.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Pro206Arg",
"transcript": "ENST00000869718.1",
"protein_id": "ENSP00000539777.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 384,
"cds_start": 617,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869718.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Pro206Arg",
"transcript": "ENST00000940687.1",
"protein_id": "ENSP00000610746.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 364,
"cds_start": 617,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940687.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.617C>G",
"hgvs_p": "p.Pro206Arg",
"transcript": "ENST00000940686.1",
"protein_id": "ENSP00000610745.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 363,
"cds_start": 617,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940686.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Pro168Arg",
"transcript": "NM_001321963.2",
"protein_id": "NP_001308892.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 346,
"cds_start": 503,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321963.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Pro168Arg",
"transcript": "NM_001321964.2",
"protein_id": "NP_001308893.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 346,
"cds_start": 503,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321964.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Pro168Arg",
"transcript": "NM_001321965.2",
"protein_id": "NP_001308894.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 346,
"cds_start": 503,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321965.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.503C>G",
"hgvs_p": "p.Pro168Arg",
"transcript": "NM_001321966.2",
"protein_id": "NP_001308895.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 326,
"cds_start": 503,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321966.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000522789.5",
"protein_id": "ENSP00000428015.1",
"transcript_support_level": 3,
"aa_start": 48,
"aa_end": null,
"aa_length": 206,
"cds_start": 143,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522789.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.26C>G",
"hgvs_p": "p.Pro9Arg",
"transcript": "ENST00000519085.5",
"protein_id": "ENSP00000429158.1",
"transcript_support_level": 2,
"aa_start": 9,
"aa_end": null,
"aa_length": 139,
"cds_start": 26,
"cds_end": null,
"cds_length": 420,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519085.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Pro294Arg",
"transcript": "XM_006716538.4",
"protein_id": "XP_006716601.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 472,
"cds_start": 881,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716538.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAAF11",
"gene_hgnc_id": 16725,
"hgvs_c": "c.881C>G",
"hgvs_p": "p.Pro294Arg",
"transcript": "XM_011516950.3",
"protein_id": "XP_011515252.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 452,
"cds_start": 881,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516950.3"
},
{
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}