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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: 11-125627641-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=125627641&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 125627641,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000438015.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "NM_001114122.3",
"protein_id": "NP_001107594.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "ENST00000438015.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000438015.7",
"protein_id": "ENSP00000388648.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": "NM_001114122.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000428830.6",
"protein_id": "ENSP00000412504.2",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 159,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000534070.5",
"protein_id": "ENSP00000435371.1",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.337+808G>A",
"hgvs_p": null,
"transcript": "ENST00000427383.6",
"protein_id": "ENSP00000391090.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.7+808G>A",
"hgvs_p": null,
"transcript": "ENST00000544373.5",
"protein_id": "ENSP00000442317.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "NM_001114121.2",
"protein_id": "NP_001107593.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "NM_001274.5",
"protein_id": "NP_001265.2",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000532449.6",
"protein_id": "ENSP00000481616.2",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "NM_001244846.1",
"protein_id": "NP_001231775.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 442,
"cds_start": 100,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000278916.8",
"protein_id": "ENSP00000278916.4",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 442,
"cds_start": 100,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000527013.6",
"protein_id": "ENSP00000431525.2",
"transcript_support_level": 3,
"aa_start": 34,
"aa_end": null,
"aa_length": 205,
"cds_start": 100,
"cds_end": null,
"cds_length": 620,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000526937.5",
"protein_id": "ENSP00000431815.1",
"transcript_support_level": 4,
"aa_start": 34,
"aa_end": null,
"aa_length": 169,
"cds_start": 100,
"cds_end": null,
"cds_length": 512,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000534685.5",
"protein_id": "ENSP00000432470.1",
"transcript_support_level": 5,
"aa_start": 34,
"aa_end": null,
"aa_length": 126,
"cds_start": 100,
"cds_end": null,
"cds_length": 381,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "XM_024448337.2",
"protein_id": "XP_024304105.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "XM_047426311.1",
"protein_id": "XP_047282267.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 476,
"cds_start": 100,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.100G>A",
"hgvs_p": null,
"transcript": "ENST00000524737.6",
"protein_id": "ENSP00000432890.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.*18G>A",
"hgvs_p": null,
"transcript": "ENST00000525396.5",
"protein_id": "ENSP00000434141.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.553G>A",
"hgvs_p": null,
"transcript": "ENST00000531062.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.534G>A",
"hgvs_p": null,
"transcript": "NR_045205.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.-24G>A",
"hgvs_p": null,
"transcript": "ENST00000531607.5",
"protein_id": "ENSP00000477588.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": -4,
"cds_end": null,
"cds_length": 332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "n.*18G>A",
"hgvs_p": null,
"transcript": "ENST00000525396.5",
"protein_id": "ENSP00000434141.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHEK1",
"gene_hgnc_id": 1925,
"hgvs_c": "c.337+808G>A",
"hgvs_p": null,
"transcript": "ENST00000711049.1",
"protein_id": "ENSP00000518558.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 492,
"cds_start": -4,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
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}