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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: 1-67395923-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=67395923&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 67395923,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001559.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "NM_001374259.2",
"protein_id": "NP_001361188.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000674203.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374259.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "ENST00000674203.2",
"protein_id": "ENSP00000501329.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001374259.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674203.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "ENST00000262345.5",
"protein_id": "ENSP00000262345.1",
"transcript_support_level": 1,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262345.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "ENST00000544434.5",
"protein_id": "ENSP00000442443.1",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544434.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.*324T>G",
"hgvs_p": null,
"transcript": "ENST00000541374.6",
"protein_id": "ENSP00000445276.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541374.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "NM_001559.3",
"protein_id": "NP_001550.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001559.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "ENST00000648487.1",
"protein_id": "ENSP00000497959.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648487.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "ENST00000946361.1",
"protein_id": "ENSP00000616420.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946361.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "NM_001258215.1",
"protein_id": "NP_001245144.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258215.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "ENST00000946360.1",
"protein_id": "ENSP00000616419.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946360.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "ENST00000946362.1",
"protein_id": "ENSP00000616421.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946362.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "XM_005270827.3",
"protein_id": "XP_005270884.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270827.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "XM_005270828.4",
"protein_id": "XP_005270885.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005270828.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2423T>G",
"hgvs_p": "p.Leu808Arg",
"transcript": "XM_011541383.3",
"protein_id": "XP_011539685.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 862,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541383.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2264T>G",
"hgvs_p": "p.Leu755Arg",
"transcript": "XM_011541384.3",
"protein_id": "XP_011539686.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 809,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541384.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2264T>G",
"hgvs_p": "p.Leu755Arg",
"transcript": "XM_047419665.1",
"protein_id": "XP_047275621.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 809,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419665.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2264T>G",
"hgvs_p": "p.Leu755Arg",
"transcript": "XM_047419666.1",
"protein_id": "XP_047275622.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 809,
"cds_start": 2264,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419666.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "XM_006710617.3",
"protein_id": "XP_006710680.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710617.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.2165T>G",
"hgvs_p": "p.Leu722Arg",
"transcript": "XM_047419667.1",
"protein_id": "XP_047275623.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 776,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419667.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.1124T>G",
"hgvs_p": "p.Leu375Arg",
"transcript": "XM_047419670.1",
"protein_id": "XP_047275626.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 429,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.*343T>G",
"hgvs_p": null,
"transcript": "NM_001258214.1",
"protein_id": "NP_001245143.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258214.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL12RB2",
"gene_hgnc_id": 5972,
"hgvs_c": "c.*343T>G",
"hgvs_p": null,
"transcript": "NM_001319233.1",
"protein_id": "NP_001306162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
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}
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}