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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: 19-45770541-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45770541&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45770541,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000291270.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Ala613Ser",
"transcript": "NM_004409.5",
"protein_id": "NP_004400.4",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 629,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "ENST00000291270.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1837G>T",
"hgvs_p": "p.Ala613Ser",
"transcript": "ENST00000291270.9",
"protein_id": "ENSP00000291270.4",
"transcript_support_level": 5,
"aa_start": 613,
"aa_end": null,
"aa_length": 629,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2799,
"mane_select": "NM_004409.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1822G>T",
"hgvs_p": "p.Ala608Ser",
"transcript": "ENST00000447742.6",
"protein_id": "ENSP00000413417.1",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 624,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2754,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1833G>T",
"hgvs_p": "p.Thr611Thr",
"transcript": "ENST00000343373.10",
"protein_id": "ENSP00000345997.4",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 630,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 2754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1915G>T",
"hgvs_p": "p.Ala639Ser",
"transcript": "NM_001288764.2",
"protein_id": "NP_001275693.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 655,
"cds_start": 1915,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1867G>T",
"hgvs_p": "p.Ala623Ser",
"transcript": "NM_001081563.3",
"protein_id": "NP_001075032.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 639,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 4298,
"cdna_end": null,
"cdna_length": 5122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1822G>T",
"hgvs_p": "p.Ala608Ser",
"transcript": "NM_001081560.3",
"protein_id": "NP_001075029.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 624,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1747G>T",
"hgvs_p": "p.Ala583Ser",
"transcript": "NM_001424165.1",
"protein_id": "NP_001411094.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 599,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 2709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1732G>T",
"hgvs_p": "p.Ala578Ser",
"transcript": "NM_001424169.1",
"protein_id": "NP_001411098.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 594,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 2694,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1911G>T",
"hgvs_p": "p.Thr637Thr",
"transcript": "NM_001424163.1",
"protein_id": "NP_001411092.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 656,
"cds_start": 1911,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 2854,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1833G>T",
"hgvs_p": "p.Thr611Thr",
"transcript": "NM_001424162.1",
"protein_id": "NP_001411091.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 630,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 2795,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1818G>T",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001081562.3",
"protein_id": "NP_001075031.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 625,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 2780,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1818G>T",
"hgvs_p": "p.Thr606Thr",
"transcript": "ENST00000458663.6",
"protein_id": "ENSP00000401753.1",
"transcript_support_level": 5,
"aa_start": 606,
"aa_end": null,
"aa_length": 625,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 2548,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1566G>T",
"hgvs_p": "p.Thr522Thr",
"transcript": "NM_001288765.2",
"protein_id": "NP_001275694.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 541,
"cds_start": 1566,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 2502,
"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": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1392G>T",
"hgvs_p": "p.Thr464Thr",
"transcript": "NM_001424166.1",
"protein_id": "NP_001411095.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 483,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2844,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Thr172Thr",
"transcript": "ENST00000593574.1",
"protein_id": "ENSP00000469220.1",
"transcript_support_level": 4,
"aa_start": 172,
"aa_end": null,
"aa_length": 181,
"cds_start": 516,
"cds_end": null,
"cds_length": 547,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 548,
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.*1659G>T",
"hgvs_p": null,
"transcript": "ENST00000588522.5",
"protein_id": "ENSP00000468013.1",
"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": 2920,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.1678G>T",
"hgvs_p": null,
"transcript": "ENST00000596686.5",
"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": 2499,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.825G>T",
"hgvs_p": null,
"transcript": "ENST00000598272.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1410,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.1522G>T",
"hgvs_p": null,
"transcript": "ENST00000600370.2",
"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": 2277,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.2411G>T",
"hgvs_p": null,
"transcript": "ENST00000600757.6",
"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": 3227,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.2536G>T",
"hgvs_p": null,
"transcript": "ENST00000674226.1",
"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": 3357,
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "n.2349G>T",
"hgvs_p": null,
"transcript": "ENST00000682259.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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}
],
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}