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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: 19-45771011-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45771011&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45771011,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001424163.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Gln565*",
"transcript": "ENST00000343373.10",
"protein_id": "ENSP00000345997.4",
"transcript_support_level": 1,
"aa_start": 565,
"aa_end": null,
"aa_length": 630,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343373.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Pro566Leu",
"transcript": "NM_004409.5",
"protein_id": "NP_004400.4",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 629,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000291270.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004409.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Pro566Leu",
"transcript": "ENST00000291270.9",
"protein_id": "ENSP00000291270.4",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 629,
"cds_start": 1697,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004409.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291270.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Pro561Leu",
"transcript": "ENST00000447742.6",
"protein_id": "ENSP00000413417.1",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 624,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447742.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Gln591*",
"transcript": "NM_001424163.1",
"protein_id": "NP_001411092.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 656,
"cds_start": 1771,
"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_001424163.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1693C>T",
"hgvs_p": "p.Gln565*",
"transcript": "NM_001424162.1",
"protein_id": "NP_001411091.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 630,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424162.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Gln560*",
"transcript": "NM_001081562.3",
"protein_id": "NP_001075031.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 625,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081562.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1678C>T",
"hgvs_p": "p.Gln560*",
"transcript": "ENST00000458663.6",
"protein_id": "ENSP00000401753.1",
"transcript_support_level": 5,
"aa_start": 560,
"aa_end": null,
"aa_length": 625,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458663.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1426C>T",
"hgvs_p": "p.Gln476*",
"transcript": "NM_001288765.2",
"protein_id": "NP_001275694.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 541,
"cds_start": 1426,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288765.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1252C>T",
"hgvs_p": "p.Gln418*",
"transcript": "NM_001424166.1",
"protein_id": "NP_001411095.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 483,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424166.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1775C>T",
"hgvs_p": "p.Pro592Leu",
"transcript": "NM_001288764.2",
"protein_id": "NP_001275693.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 655,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288764.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1730C>T",
"hgvs_p": "p.Pro577Leu",
"transcript": "ENST00000902152.1",
"protein_id": "ENSP00000572211.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 640,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902152.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Pro576Leu",
"transcript": "NM_001081563.3",
"protein_id": "NP_001075032.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 639,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081563.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Pro564Leu",
"transcript": "ENST00000902147.1",
"protein_id": "ENSP00000572206.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 627,
"cds_start": 1691,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902147.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Pro561Leu",
"transcript": "NM_001081560.3",
"protein_id": "NP_001075029.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 624,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001081560.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1676C>T",
"hgvs_p": "p.Pro559Leu",
"transcript": "ENST00000947414.1",
"protein_id": "ENSP00000617473.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 622,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947414.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1646C>T",
"hgvs_p": "p.Pro549Leu",
"transcript": "ENST00000902150.1",
"protein_id": "ENSP00000572209.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 612,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902150.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1631C>T",
"hgvs_p": "p.Pro544Leu",
"transcript": "ENST00000902149.1",
"protein_id": "ENSP00000572208.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 607,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902149.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1547C>T",
"hgvs_p": "p.Pro516Leu",
"transcript": "ENST00000902148.1",
"protein_id": "ENSP00000572207.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 579,
"cds_start": 1547,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902148.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Pro511Leu",
"transcript": "ENST00000902151.1",
"protein_id": "ENSP00000572210.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 574,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902151.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1490C>T",
"hgvs_p": "p.Pro497Leu",
"transcript": "ENST00000947413.1",
"protein_id": "ENSP00000617472.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 560,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947413.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMPK",
"gene_hgnc_id": 2933,
"hgvs_c": "c.1433C>T",
"hgvs_p": "p.Pro478Leu",
"transcript": "ENST00000902153.1",
"protein_id": "ENSP00000572212.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 541,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.243,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.067,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001424163.1",
"gene_symbol": "DMPK",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000586251.5",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Inborn genetic diseases,Myotonic dystrophy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Myotonic dystrophy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}