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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: 6-138424222-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424222&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138424222,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020464.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4680G>A",
"hgvs_p": "p.Met1560Ile",
"transcript": "NM_001144060.2",
"protein_id": "NP_001137532.1",
"transcript_support_level": null,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4680,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343505.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144060.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4680G>A",
"hgvs_p": "p.Met1560Ile",
"transcript": "ENST00000343505.10",
"protein_id": "ENSP00000344672.5",
"transcript_support_level": 5,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4680,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343505.10"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4911G>A",
"hgvs_p": "p.Met1637Ile",
"transcript": "ENST00000491526.7",
"protein_id": "ENSP00000433523.2",
"transcript_support_level": 3,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4911,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491526.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4692G>A",
"hgvs_p": "p.Met1564Ile",
"transcript": "NM_020464.2",
"protein_id": "NP_065197.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4692,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020464.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4692G>A",
"hgvs_p": "p.Met1564Ile",
"transcript": "ENST00000427025.6",
"protein_id": "ENSP00000394546.2",
"transcript_support_level": 5,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4692,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427025.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4965G>A",
"hgvs_p": "p.Met1655Ile",
"transcript": "XM_011535976.2",
"protein_id": "XP_011534278.2",
"transcript_support_level": null,
"aa_start": 1655,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4965,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535976.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4911G>A",
"hgvs_p": "p.Met1637Ile",
"transcript": "XM_047419109.1",
"protein_id": "XP_047275065.1",
"transcript_support_level": null,
"aa_start": 1637,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4911,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419109.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Met1626Ile",
"transcript": "XM_011535966.4",
"protein_id": "XP_011534268.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4878,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535966.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Met1626Ile",
"transcript": "XM_011535967.4",
"protein_id": "XP_011534269.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4878,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535967.4"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4878G>A",
"hgvs_p": "p.Met1626Ile",
"transcript": "XM_017011086.3",
"protein_id": "XP_016866575.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4878,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011086.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4833G>A",
"hgvs_p": "p.Met1611Ile",
"transcript": "XM_047419110.1",
"protein_id": "XP_047275066.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4833,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419110.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4824G>A",
"hgvs_p": "p.Met1608Ile",
"transcript": "XM_047419111.1",
"protein_id": "XP_047275067.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4824,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419111.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4824G>A",
"hgvs_p": "p.Met1608Ile",
"transcript": "XM_047419112.1",
"protein_id": "XP_047275068.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4824,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419112.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4779G>A",
"hgvs_p": "p.Met1593Ile",
"transcript": "XM_047419113.1",
"protein_id": "XP_047275069.1",
"transcript_support_level": null,
"aa_start": 1593,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4779,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419113.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4773G>A",
"hgvs_p": "p.Met1591Ile",
"transcript": "XM_017011087.1",
"protein_id": "XP_016866576.1",
"transcript_support_level": null,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4773,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011087.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4737G>A",
"hgvs_p": "p.Met1579Ile",
"transcript": "XM_011535969.3",
"protein_id": "XP_011534271.1",
"transcript_support_level": null,
"aa_start": 1579,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4737,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535969.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4734G>A",
"hgvs_p": "p.Met1578Ile",
"transcript": "XM_011535970.3",
"protein_id": "XP_011534272.1",
"transcript_support_level": null,
"aa_start": 1578,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4734,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535970.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4728G>A",
"hgvs_p": "p.Met1576Ile",
"transcript": "XM_017011088.2",
"protein_id": "XP_016866577.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4728,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011088.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4719G>A",
"hgvs_p": "p.Met1573Ile",
"transcript": "XM_047419114.1",
"protein_id": "XP_047275070.1",
"transcript_support_level": null,
"aa_start": 1573,
"aa_end": null,
"aa_length": 1619,
"cds_start": 4719,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419114.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4716G>A",
"hgvs_p": "p.Met1572Ile",
"transcript": "XM_011535971.3",
"protein_id": "XP_011534273.1",
"transcript_support_level": null,
"aa_start": 1572,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4716,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535971.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"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": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4692G>A",
"hgvs_p": "p.Met1564Ile",
"transcript": "XM_011535972.3",
"protein_id": "XP_011534274.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4692,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535972.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4692G>A",
"hgvs_p": "p.Met1564Ile",
"transcript": "XM_047419115.1",
"protein_id": "XP_047275071.1",
"transcript_support_level": null,
"aa_start": 1564,
"aa_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -4,
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}