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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: 15-44563298-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=44563298&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 44563298,
"ref": "A",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000261866.12",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7155T>A",
"hgvs_p": "p.Tyr2385*",
"transcript": "NM_025137.4",
"protein_id": "NP_079413.3",
"transcript_support_level": null,
"aa_start": 2385,
"aa_end": null,
"aa_length": 2443,
"cds_start": 7155,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 7170,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "ENST00000261866.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7155T>A",
"hgvs_p": "p.Tyr2385*",
"transcript": "ENST00000261866.12",
"protein_id": "ENSP00000261866.7",
"transcript_support_level": 1,
"aa_start": 2385,
"aa_end": null,
"aa_length": 2443,
"cds_start": 7155,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 7170,
"cdna_end": null,
"cdna_length": 7772,
"mane_select": "NM_025137.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6816T>A",
"hgvs_p": "p.Tyr2272*",
"transcript": "ENST00000535302.6",
"protein_id": "ENSP00000445278.2",
"transcript_support_level": 1,
"aa_start": 2272,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6816,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6844,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6758T>A",
"hgvs_p": "p.Ile2253Lys",
"transcript": "ENST00000427534.6",
"protein_id": "ENSP00000396110.2",
"transcript_support_level": 1,
"aa_start": 2253,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6758,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 6758,
"cdna_end": null,
"cdna_length": 6935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7011T>A",
"hgvs_p": "p.Tyr2337*",
"transcript": "NM_001411132.1",
"protein_id": "NP_001398061.1",
"transcript_support_level": null,
"aa_start": 2337,
"aa_end": null,
"aa_length": 2395,
"cds_start": 7011,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 7026,
"cdna_end": null,
"cdna_length": 7628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.7011T>A",
"hgvs_p": "p.Tyr2337*",
"transcript": "ENST00000682065.1",
"protein_id": "ENSP00000507025.1",
"transcript_support_level": null,
"aa_start": 2337,
"aa_end": null,
"aa_length": 2395,
"cds_start": 7011,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 7042,
"cdna_end": null,
"cdna_length": 7624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6954T>A",
"hgvs_p": "p.Tyr2318*",
"transcript": "ENST00000682669.1",
"protein_id": "ENSP00000507782.1",
"transcript_support_level": null,
"aa_start": 2318,
"aa_end": null,
"aa_length": 2376,
"cds_start": 6954,
"cds_end": null,
"cds_length": 7131,
"cdna_start": 6985,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6816T>A",
"hgvs_p": "p.Tyr2272*",
"transcript": "NM_001160227.2",
"protein_id": "NP_001153699.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6816,
"cds_end": null,
"cds_length": 6993,
"cdna_start": 6831,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6678T>A",
"hgvs_p": "p.Tyr2226*",
"transcript": "ENST00000559511.6",
"protein_id": "ENSP00000453246.2",
"transcript_support_level": 2,
"aa_start": 2226,
"aa_end": null,
"aa_length": 2284,
"cds_start": 6678,
"cds_end": null,
"cds_length": 6855,
"cdna_start": 6678,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.846T>A",
"hgvs_p": "p.Tyr282*",
"transcript": "ENST00000558138.2",
"protein_id": "ENSP00000453314.2",
"transcript_support_level": 5,
"aa_start": 282,
"aa_end": null,
"aa_length": 340,
"cds_start": 846,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.6552T>A",
"hgvs_p": "p.Tyr2184*",
"transcript": "XM_047433144.1",
"protein_id": "XP_047289100.1",
"transcript_support_level": null,
"aa_start": 2184,
"aa_end": null,
"aa_length": 2242,
"cds_start": 6552,
"cds_end": null,
"cds_length": 6729,
"cdna_start": 7416,
"cdna_end": null,
"cdna_length": 8018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "c.4032T>A",
"hgvs_p": "p.Tyr1344*",
"transcript": "XM_047433146.1",
"protein_id": "XP_047289102.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1402,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4209,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 4738,
"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": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3412T>A",
"hgvs_p": null,
"transcript": "ENST00000682460.1",
"protein_id": "ENSP00000508334.1",
"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": 7691,
"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": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3647T>A",
"hgvs_p": null,
"transcript": "ENST00000682495.1",
"protein_id": "ENSP00000507166.1",
"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": 7893,
"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": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3918T>A",
"hgvs_p": null,
"transcript": "ENST00000683186.1",
"protein_id": "ENSP00000507268.1",
"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": 7578,
"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": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*797T>A",
"hgvs_p": null,
"transcript": "ENST00000683496.1",
"protein_id": "ENSP00000506968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7425,
"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": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*1105T>A",
"hgvs_p": null,
"transcript": "ENST00000683734.1",
"protein_id": "ENSP00000508319.1",
"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": 7612,
"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": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.6201T>A",
"hgvs_p": null,
"transcript": "ENST00000683753.1",
"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": 6783,
"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": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3575T>A",
"hgvs_p": null,
"transcript": "ENST00000684038.1",
"protein_id": "ENSP00000507141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3412T>A",
"hgvs_p": null,
"transcript": "ENST00000682460.1",
"protein_id": "ENSP00000508334.1",
"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": 7691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3647T>A",
"hgvs_p": null,
"transcript": "ENST00000682495.1",
"protein_id": "ENSP00000507166.1",
"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": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*3918T>A",
"hgvs_p": null,
"transcript": "ENST00000683186.1",
"protein_id": "ENSP00000507268.1",
"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": 7578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"hgvs_c": "n.*797T>A",
"hgvs_p": null,
"transcript": "ENST00000683496.1",
"protein_id": "ENSP00000506968.1",
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},
{
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"3_prime_UTR_variant"
],
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},
{
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},
{
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],
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"gene_symbol": "SPG11",
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"transcript": "ENST00000684235.1",
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"cdna_length": 7574,
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}
],
"gene_symbol": "SPG11",
"gene_hgnc_id": 11226,
"dbsnp": "rs778305085",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38070550560951233,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.109,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000261866.12",
"gene_symbol": "SPG11",
"hgnc_id": 11226,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.7155T>A",
"hgvs_p": "p.Tyr2385*"
}
],
"clinvar_disease": "Hereditary spastic paraplegia 11,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "not provided|Hereditary spastic paraplegia 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}