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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: 17-81844063-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81844063&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81844063,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000918.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1476G>C",
"hgvs_p": "p.Glu492Asp",
"transcript": "NM_000918.4",
"protein_id": "NP_000909.2",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 508,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331483.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000918.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1476G>C",
"hgvs_p": "p.Glu492Asp",
"transcript": "ENST00000331483.9",
"protein_id": "ENSP00000327801.4",
"transcript_support_level": 1,
"aa_start": 492,
"aa_end": null,
"aa_length": 508,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000918.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331483.9"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1206G>C",
"hgvs_p": "p.Glu402Asp",
"transcript": "ENST00000415593.6",
"protein_id": "ENSP00000388117.2",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 418,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415593.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1116G>C",
"hgvs_p": null,
"transcript": "ENST00000473021.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473021.2"
},
{
"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": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.790G>C",
"hgvs_p": null,
"transcript": "ENST00000476482.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476482.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1668G>C",
"hgvs_p": null,
"transcript": "ENST00000477607.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477607.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1650G>C",
"hgvs_p": "p.Glu550Asp",
"transcript": "ENST00000936208.1",
"protein_id": "ENSP00000606267.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 566,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936208.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1623G>C",
"hgvs_p": "p.Glu541Asp",
"transcript": "ENST00000889214.1",
"protein_id": "ENSP00000559273.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 557,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889214.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1578G>C",
"hgvs_p": "p.Glu526Asp",
"transcript": "ENST00000680884.1",
"protein_id": "ENSP00000505953.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 542,
"cds_start": 1578,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680884.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1569G>C",
"hgvs_p": "p.Glu523Asp",
"transcript": "ENST00000889213.1",
"protein_id": "ENSP00000559272.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 539,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889213.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1577G>C",
"hgvs_p": "p.Ser526Thr",
"transcript": "ENST00000570907.6",
"protein_id": "ENSP00000461362.2",
"transcript_support_level": 3,
"aa_start": 526,
"aa_end": null,
"aa_length": 537,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570907.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1551G>C",
"hgvs_p": "p.Glu517Asp",
"transcript": "ENST00000680191.1",
"protein_id": "ENSP00000506544.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 533,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680191.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Ser510Thr",
"transcript": "ENST00000680226.1",
"protein_id": "ENSP00000505635.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 521,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680226.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1512G>C",
"hgvs_p": "p.Glu504Asp",
"transcript": "ENST00000948312.1",
"protein_id": "ENSP00000618371.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 520,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948312.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1512G>C",
"hgvs_p": "p.Glu504Asp",
"transcript": "ENST00000948313.1",
"protein_id": "ENSP00000618372.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 520,
"cds_start": 1512,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948313.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1467G>C",
"hgvs_p": "p.Glu489Asp",
"transcript": "ENST00000948310.1",
"protein_id": "ENSP00000618369.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 505,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948310.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1425G>C",
"hgvs_p": "p.Glu475Asp",
"transcript": "ENST00000889212.1",
"protein_id": "ENSP00000559271.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 491,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889212.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1416G>C",
"hgvs_p": "p.Glu472Asp",
"transcript": "ENST00000680914.1",
"protein_id": "ENSP00000505149.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 488,
"cds_start": 1416,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680914.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1410G>C",
"hgvs_p": "p.Glu470Asp",
"transcript": "ENST00000680593.1",
"protein_id": "ENSP00000505754.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 486,
"cds_start": 1410,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680593.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1395G>C",
"hgvs_p": "p.Glu465Asp",
"transcript": "ENST00000681693.1",
"protein_id": "ENSP00000505096.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 481,
"cds_start": 1395,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681693.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1389G>C",
"hgvs_p": "p.Glu463Asp",
"transcript": "ENST00000679439.1",
"protein_id": "ENSP00000505377.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 479,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679439.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1368G>C",
"hgvs_p": "p.Glu456Asp",
"transcript": "ENST00000574914.2",
"protein_id": "ENSP00000460612.2",
"transcript_support_level": 4,
"aa_start": 456,
"aa_end": null,
"aa_length": 472,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574914.2"
},
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}