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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: 7-30632247-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=30632247&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 30632247,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000389266.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1904C>G",
"hgvs_p": "p.Ser635Trp",
"transcript": "NM_002047.4",
"protein_id": "NP_002038.2",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 739,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "ENST00000389266.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1904C>G",
"hgvs_p": "p.Ser635Trp",
"transcript": "ENST00000389266.8",
"protein_id": "ENSP00000373918.3",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 739,
"cds_start": 1904,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "NM_002047.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1922C>G",
"hgvs_p": "p.Ala641Gly",
"transcript": "ENST00000675651.1",
"protein_id": "ENSP00000502513.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 745,
"cds_start": 1922,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1802C>G",
"hgvs_p": "p.Ser601Trp",
"transcript": "ENST00000675810.1",
"protein_id": "ENSP00000502743.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 705,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 2231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1736C>G",
"hgvs_p": "p.Ser579Trp",
"transcript": "ENST00000675693.1",
"protein_id": "ENSP00000502174.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 683,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1703C>G",
"hgvs_p": "p.Ser568Trp",
"transcript": "ENST00000675051.1",
"protein_id": "ENSP00000502296.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 672,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Ser512Trp",
"transcript": "ENST00000674815.1",
"protein_id": "ENSP00000502799.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 616,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "c.1535C>G",
"hgvs_p": "p.Ser512Trp",
"transcript": "ENST00000674851.1",
"protein_id": "ENSP00000502451.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 616,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*325C>G",
"hgvs_p": null,
"transcript": "ENST00000444666.6",
"protein_id": "ENSP00000415447.2",
"transcript_support_level": 3,
"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": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1618C>G",
"hgvs_p": null,
"transcript": "ENST00000674616.1",
"protein_id": "ENSP00000502408.1",
"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": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1709C>G",
"hgvs_p": null,
"transcript": "ENST00000674643.1",
"protein_id": "ENSP00000501636.1",
"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": 3328,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1242C>G",
"hgvs_p": null,
"transcript": "ENST00000674737.1",
"protein_id": "ENSP00000502464.1",
"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": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*177C>G",
"hgvs_p": null,
"transcript": "ENST00000674807.1",
"protein_id": "ENSP00000502814.1",
"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": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1774C>G",
"hgvs_p": null,
"transcript": "ENST00000675529.1",
"protein_id": "ENSP00000501655.1",
"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": 2536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*83C>G",
"hgvs_p": null,
"transcript": "ENST00000675859.1",
"protein_id": "ENSP00000502033.1",
"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": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1846C>G",
"hgvs_p": null,
"transcript": "ENST00000676088.1",
"protein_id": "ENSP00000501884.1",
"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": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*849C>G",
"hgvs_p": null,
"transcript": "ENST00000676140.1",
"protein_id": "ENSP00000502571.1",
"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": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1355C>G",
"hgvs_p": null,
"transcript": "ENST00000676164.1",
"protein_id": "ENSP00000501986.1",
"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": 2441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1193C>G",
"hgvs_p": null,
"transcript": "ENST00000676210.1",
"protein_id": "ENSP00000502373.1",
"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": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*1336C>G",
"hgvs_p": null,
"transcript": "ENST00000676259.1",
"protein_id": "ENSP00000501980.1",
"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": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.1810C>G",
"hgvs_p": null,
"transcript": "ENST00000676403.1",
"protein_id": "ENSP00000502681.1",
"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": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GARS1",
"gene_hgnc_id": 4162,
"hgvs_c": "n.*325C>G",
"hgvs_p": null,
"transcript": "ENST00000444666.6",
"protein_id": "ENSP00000415447.2",
"transcript_support_level": 3,
"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": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
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{
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],
"clinvar_disease": "not specified",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}