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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: 11-3006944-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3006944&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3006944,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001014437.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.2084A>T",
"hgvs_p": "p.Gln695Leu",
"transcript": "NM_001014437.3",
"protein_id": "NP_001014437.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 831,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380525.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014437.3"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.2084A>T",
"hgvs_p": "p.Gln695Leu",
"transcript": "ENST00000380525.9",
"protein_id": "ENSP00000369897.4",
"transcript_support_level": 1,
"aa_start": 695,
"aa_end": null,
"aa_length": 831,
"cds_start": 2084,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001014437.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380525.9"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "ENST00000397111.9",
"protein_id": "ENSP00000380300.5",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 748,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397111.9"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "ENST00000278224.13",
"protein_id": "ENSP00000278224.9",
"transcript_support_level": 1,
"aa_start": 612,
"aa_end": null,
"aa_length": 726,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000278224.13"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.2084A>T",
"hgvs_p": "p.Gln695Leu",
"transcript": "NM_001194997.2",
"protein_id": "NP_001181926.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 809,
"cds_start": 2084,
"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": "NM_001194997.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.2015A>T",
"hgvs_p": "p.Gln672Leu",
"transcript": "ENST00000962722.1",
"protein_id": "ENSP00000632781.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 808,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962722.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1868A>T",
"hgvs_p": "p.Gln623Leu",
"transcript": "ENST00000962721.1",
"protein_id": "ENSP00000632780.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 759,
"cds_start": 1868,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962721.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "NM_001751.6",
"protein_id": "NP_001742.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 748,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001751.6"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1874A>T",
"hgvs_p": "p.Gln625Leu",
"transcript": "NM_001378136.1",
"protein_id": "NP_001365065.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 739,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378136.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1874A>T",
"hgvs_p": "p.Gln625Leu",
"transcript": "ENST00000529772.5",
"protein_id": "ENSP00000432619.2",
"transcript_support_level": 2,
"aa_start": 625,
"aa_end": null,
"aa_length": 739,
"cds_start": 1874,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529772.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1805A>T",
"hgvs_p": "p.Gln602Leu",
"transcript": "NM_001378137.1",
"protein_id": "NP_001365066.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 738,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378137.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1790A>T",
"hgvs_p": "p.Gln597Leu",
"transcript": "ENST00000962720.1",
"protein_id": "ENSP00000632779.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 733,
"cds_start": 1790,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962720.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "ENST00000868851.1",
"protein_id": "ENSP00000538910.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 728,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868851.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "NM_139273.4",
"protein_id": "NP_644802.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 726,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139273.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1766A>T",
"hgvs_p": "p.Gln589Leu",
"transcript": "ENST00000868850.1",
"protein_id": "ENSP00000538909.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 725,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868850.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "ENST00000868852.1",
"protein_id": "ENSP00000538911.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 720,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868852.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1805A>T",
"hgvs_p": "p.Gln602Leu",
"transcript": "NM_001378138.1",
"protein_id": "NP_001365067.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 716,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378138.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1805A>T",
"hgvs_p": "p.Gln602Leu",
"transcript": "NM_001378139.1",
"protein_id": "NP_001365068.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 716,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378139.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1835A>T",
"hgvs_p": "p.Gln612Leu",
"transcript": "ENST00000920476.1",
"protein_id": "ENSP00000590535.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 700,
"cds_start": 1835,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920476.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1805A>T",
"hgvs_p": "p.Gln602Leu",
"transcript": "NM_001440304.1",
"protein_id": "NP_001427233.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 676,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440304.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.1559A>T",
"hgvs_p": "p.Gln520Leu",
"transcript": "NM_001378140.1",
"protein_id": "NP_001365069.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 656,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378140.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARS1",
"gene_hgnc_id": 1493,
"hgvs_c": "c.956A>T",
"hgvs_p": "p.Gln319Leu",
"transcript": "ENST00000920475.1",
"protein_id": "ENSP00000590534.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 455,
"cds_start": 956,
"cds_end": null,
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"verdict": "Uncertain_significance",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}