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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: 8-18059424-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18059424&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18059424,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004315.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"transcript": "NM_177924.5",
"protein_id": "NP_808592.2",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 395,
"cds_start": 958,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000637790.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177924.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"transcript": "ENST00000637790.2",
"protein_id": "ENSP00000490272.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 395,
"cds_start": 958,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177924.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637790.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Asn336Asp",
"transcript": "ENST00000381733.9",
"protein_id": "ENSP00000371152.4",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 411,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381733.9"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"transcript": "ENST00000314146.10",
"protein_id": "ENSP00000326970.10",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 389,
"cds_start": 940,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314146.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*1476A>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"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": "ENST00000637244.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*1476A>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"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": "ENST00000637244.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Asn336Asp",
"transcript": "NM_004315.6",
"protein_id": "NP_004306.3",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 411,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004315.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.952A>G",
"hgvs_p": "p.Asn318Asp",
"transcript": "ENST00000637636.1",
"protein_id": "ENSP00000490112.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 393,
"cds_start": 952,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637636.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.940A>G",
"hgvs_p": "p.Asn314Asp",
"transcript": "NM_001127505.3",
"protein_id": "NP_001120977.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 389,
"cds_start": 940,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127505.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Asn311Asp",
"transcript": "ENST00000637991.1",
"protein_id": "ENSP00000489901.1",
"transcript_support_level": 5,
"aa_start": 311,
"aa_end": null,
"aa_length": 386,
"cds_start": 931,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637991.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.931A>G",
"hgvs_p": "p.Asn311Asp",
"transcript": "ENST00000961129.1",
"protein_id": "ENSP00000631188.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 386,
"cds_start": 931,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961129.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Asn301Asp",
"transcript": "ENST00000636171.1",
"protein_id": "ENSP00000489761.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 376,
"cds_start": 901,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636171.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.898A>G",
"hgvs_p": "p.Asn300Asp",
"transcript": "ENST00000636577.1",
"protein_id": "ENSP00000490027.1",
"transcript_support_level": 5,
"aa_start": 300,
"aa_end": null,
"aa_length": 375,
"cds_start": 898,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636577.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Asn299Asp",
"transcript": "ENST00000637528.1",
"protein_id": "ENSP00000490801.1",
"transcript_support_level": 5,
"aa_start": 299,
"aa_end": null,
"aa_length": 374,
"cds_start": 895,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637528.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.883A>G",
"hgvs_p": "p.Asn295Asp",
"transcript": "ENST00000520781.6",
"protein_id": "ENSP00000427751.1",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 370,
"cds_start": 883,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520781.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.874A>G",
"hgvs_p": "p.Asn292Asp",
"transcript": "ENST00000636815.1",
"protein_id": "ENSP00000490270.1",
"transcript_support_level": 5,
"aa_start": 292,
"aa_end": null,
"aa_length": 367,
"cds_start": 874,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636815.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Asn291Asp",
"transcript": "ENST00000636997.1",
"protein_id": "ENSP00000490093.1",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 366,
"cds_start": 871,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636997.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Asn255Asp",
"transcript": "NM_001363743.2",
"protein_id": "NP_001350672.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 330,
"cds_start": 763,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363743.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Asn255Asp",
"transcript": "ENST00000636691.1",
"protein_id": "ENSP00000490725.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 330,
"cds_start": 763,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636691.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Asn255Asp",
"transcript": "ENST00000637922.1",
"protein_id": "ENSP00000490071.1",
"transcript_support_level": 5,
"aa_start": 255,
"aa_end": null,
"aa_length": 330,
"cds_start": 763,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637922.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Asn213Asp",
"transcript": "ENST00000636128.1",
"protein_id": "ENSP00000489789.1",
"transcript_support_level": 5,
"aa_start": 213,
"aa_end": null,
"aa_length": 288,
"cds_start": 637,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636128.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Asn124Asp",
"transcript": "ENST00000635756.1",
"protein_id": "ENSP00000490322.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 199,
"cds_start": 370,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Farber lipogranulomatosis",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}