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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: 11-130239848-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=130239848&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 130239848,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001370222.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001301098.2",
"protein_id": "NP_001288027.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 570,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357899.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301098.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000357899.9",
"protein_id": "ENSP00000350574.4",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 570,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001301098.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357899.9"
},
{
"aa_ref": "T",
"aa_alt": "M",
"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": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000530205.5",
"protein_id": "ENSP00000434177.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 474,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530205.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000525842.5",
"protein_id": "ENSP00000433457.1",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 453,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525842.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "n.1067C>T",
"hgvs_p": null,
"transcript": "ENST00000445008.6",
"protein_id": "ENSP00000408079.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445008.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.-185C>T",
"hgvs_p": null,
"transcript": "NM_001370222.1",
"protein_id": "NP_001357151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370222.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.-131C>T",
"hgvs_p": null,
"transcript": "XM_047426848.1",
"protein_id": "XP_047282804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426848.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001370219.1",
"protein_id": "NP_001357148.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 616,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370219.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000527478.6",
"protein_id": "ENSP00000436187.2",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 616,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527478.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001370220.1",
"protein_id": "NP_001357149.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 598,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370220.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000397753.5",
"protein_id": "ENSP00000380861.1",
"transcript_support_level": 5,
"aa_start": 356,
"aa_end": null,
"aa_length": 570,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397753.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000884638.1",
"protein_id": "ENSP00000554697.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 570,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884638.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000962914.1",
"protein_id": "ENSP00000632973.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 570,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962914.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000962913.1",
"protein_id": "ENSP00000632972.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 552,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962913.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "ENST00000962915.1",
"protein_id": "ENSP00000632974.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 552,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962915.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001301099.2",
"protein_id": "NP_001288028.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 474,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301099.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001370223.1",
"protein_id": "NP_001357152.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 474,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370223.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_014155.5",
"protein_id": "NP_054874.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 453,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014155.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "NM_001370221.1",
"protein_id": "NP_001357150.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 435,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370221.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Met",
"transcript": "ENST00000529982.5",
"protein_id": "ENSP00000432558.1",
"transcript_support_level": 2,
"aa_start": 209,
"aa_end": null,
"aa_length": 327,
"cds_start": 626,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529982.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.305C>T",
"hgvs_p": "p.Thr102Met",
"transcript": "ENST00000528448.2",
"protein_id": "ENSP00000435413.2",
"transcript_support_level": 4,
"aa_start": 102,
"aa_end": null,
"aa_length": 178,
"cds_start": 305,
"cds_end": null,
"cds_length": 538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528448.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB44",
"gene_hgnc_id": 25001,
"hgvs_c": "c.1067C>T",
"hgvs_p": "p.Thr356Met",
"transcript": "XM_047426841.1",
"protein_id": "XP_047282797.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 616,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1851,
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}
],
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}