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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: 15-91284050-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=91284050&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 91284050,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014848.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_001323032.3",
"protein_id": "NP_001309961.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394232.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323032.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000394232.6",
"protein_id": "ENSP00000377779.1",
"transcript_support_level": 5,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001323032.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394232.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000330276.4",
"protein_id": "ENSP00000332818.4",
"transcript_support_level": 1,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330276.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "n.1537C>G",
"hgvs_p": null,
"transcript": "ENST00000557410.5",
"protein_id": "ENSP00000450992.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000557410.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_001323031.2",
"protein_id": "NP_001309960.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323031.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_001323037.3",
"protein_id": "NP_001309966.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323037.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_001323038.3",
"protein_id": "NP_001309967.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323038.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_001323039.3",
"protein_id": "NP_001309968.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323039.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "NM_014848.7",
"protein_id": "NP_055663.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014848.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000867188.1",
"protein_id": "ENSP00000537247.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867188.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000867189.1",
"protein_id": "ENSP00000537248.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867189.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957278.1",
"protein_id": "ENSP00000627337.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957278.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957279.1",
"protein_id": "ENSP00000627338.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957279.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957280.1",
"protein_id": "ENSP00000627339.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957280.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957281.1",
"protein_id": "ENSP00000627340.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957281.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957282.1",
"protein_id": "ENSP00000627341.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957282.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957283.1",
"protein_id": "ENSP00000627342.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957283.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1537C>G",
"hgvs_p": "p.Arg513Gly",
"transcript": "ENST00000957284.1",
"protein_id": "ENSP00000627343.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 683,
"cds_start": 1537,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957284.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1204C>G",
"hgvs_p": "p.Arg402Gly",
"transcript": "NM_001323033.3",
"protein_id": "NP_001309962.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 572,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323033.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1108C>G",
"hgvs_p": "p.Arg370Gly",
"transcript": "NM_001323036.3",
"protein_id": "NP_001309965.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 540,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323036.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "NM_001167580.3",
"protein_id": "NP_001161052.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 532,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167580.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SV2B",
"gene_hgnc_id": 16874,
"hgvs_c": "c.1084C>G",
"hgvs_p": "p.Arg362Gly",
"transcript": "NM_001323040.3",
"protein_id": "NP_001309969.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 532,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}