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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: 19-48133015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48133015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 48133015,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000263274.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Thr564Thr",
"transcript": "NM_000234.3",
"protein_id": "NP_000225.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 919,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "ENST00000263274.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Thr564Thr",
"transcript": "ENST00000263274.12",
"protein_id": "ENSP00000263274.6",
"transcript_support_level": 1,
"aa_start": 564,
"aa_end": null,
"aa_length": 919,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 3125,
"mane_select": "NM_000234.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1689C>T",
"hgvs_p": null,
"transcript": "ENST00000594759.5",
"protein_id": "ENSP00000471380.1",
"transcript_support_level": 1,
"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": 4102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Thr564Thr",
"transcript": "ENST00000699868.1",
"protein_id": "ENSP00000514664.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 919,
"cds_start": 1692,
"cds_end": null,
"cds_length": 2760,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Thr563Thr",
"transcript": "NM_001320970.2",
"protein_id": "NP_001307899.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 918,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Thr563Thr",
"transcript": "ENST00000699866.1",
"protein_id": "ENSP00000514663.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 918,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Thr563Thr",
"transcript": "ENST00000699875.1",
"protein_id": "ENSP00000514671.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 918,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2757,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "NM_001320971.2",
"protein_id": "NP_001307900.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 889,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 3035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Thr534Thr",
"transcript": "ENST00000699874.1",
"protein_id": "ENSP00000514670.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 889,
"cds_start": 1602,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1779,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Thr533Thr",
"transcript": "NM_001289063.2",
"protein_id": "NP_001275992.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 888,
"cds_start": 1599,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Thr533Thr",
"transcript": "ENST00000427526.6",
"protein_id": "ENSP00000442841.1",
"transcript_support_level": 2,
"aa_start": 533,
"aa_end": null,
"aa_length": 888,
"cds_start": 1599,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 1760,
"cdna_end": null,
"cdna_length": 3027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Thr531Thr",
"transcript": "ENST00000699871.1",
"protein_id": "ENSP00000514667.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 886,
"cds_start": 1593,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1689C>T",
"hgvs_p": "p.Thr563Thr",
"transcript": "ENST00000699877.1",
"protein_id": "ENSP00000514672.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 867,
"cds_start": 1689,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Thr496Thr",
"transcript": "NM_001289064.2",
"protein_id": "NP_001275993.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 851,
"cds_start": 1488,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Thr496Thr",
"transcript": "ENST00000596549.6",
"protein_id": "ENSP00000471861.2",
"transcript_support_level": 4,
"aa_start": 496,
"aa_end": null,
"aa_length": 851,
"cds_start": 1488,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "c.771C>T",
"hgvs_p": "p.Thr257Thr",
"transcript": "XM_047438833.1",
"protein_id": "XP_047294789.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 612,
"cds_start": 771,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1250,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1448C>T",
"hgvs_p": null,
"transcript": "ENST00000594067.5",
"protein_id": null,
"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": 2697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.480C>T",
"hgvs_p": null,
"transcript": "ENST00000596457.1",
"protein_id": null,
"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": 792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*750C>T",
"hgvs_p": null,
"transcript": "ENST00000596672.6",
"protein_id": "ENSP00000472331.2",
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.2371C>T",
"hgvs_p": null,
"transcript": "ENST00000597901.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1692C>T",
"hgvs_p": null,
"transcript": "ENST00000601091.5",
"protein_id": "ENSP00000471836.1",
"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": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.1709C>T",
"hgvs_p": null,
"transcript": "ENST00000699867.1",
"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": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIG1",
"gene_hgnc_id": 6598,
"hgvs_c": "n.*16C>T",
"hgvs_p": null,
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"phenotype_combined": "not provided",
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}
],
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}