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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: 19-42401940-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42401940&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42401940,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000244289.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3103G>T",
"hgvs_p": "p.Glu1035*",
"transcript": "NM_005357.4",
"protein_id": "NP_005348.2",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "ENST00000244289.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3103G>T",
"hgvs_p": "p.Glu1035*",
"transcript": "ENST00000244289.9",
"protein_id": "ENSP00000244289.3",
"transcript_support_level": 1,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1076,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3342,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "NM_005357.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.105+4716C>A",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"protein_id": null,
"transcript_support_level": 1,
"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": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.3127G>T",
"hgvs_p": "p.Glu1043*",
"transcript": "ENST00000599918.2",
"protein_id": "ENSP00000472218.2",
"transcript_support_level": 5,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3127,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3127,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2875G>T",
"hgvs_p": "p.Glu959*",
"transcript": "ENST00000597620.6",
"protein_id": "ENSP00000469545.2",
"transcript_support_level": 3,
"aa_start": 959,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2353G>T",
"hgvs_p": "p.Glu785*",
"transcript": "NM_001416100.1",
"protein_id": "NP_001403029.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 826,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2402,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2338G>T",
"hgvs_p": "p.Glu780*",
"transcript": "NM_001416101.1",
"protein_id": "NP_001403030.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 821,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2233G>T",
"hgvs_p": "p.Glu745*",
"transcript": "NM_001416102.1",
"protein_id": "NP_001403031.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 786,
"cds_start": 2233,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Glu734*",
"transcript": "NM_001416103.1",
"protein_id": "NP_001403032.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 775,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2360,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Glu734*",
"transcript": "NM_001416104.1",
"protein_id": "NP_001403033.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 775,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2110G>T",
"hgvs_p": "p.Glu704*",
"transcript": "NM_001416105.1",
"protein_id": "NP_001403034.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 745,
"cds_start": 2110,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2005G>T",
"hgvs_p": "p.Glu669*",
"transcript": "NM_001416106.1",
"protein_id": "NP_001403035.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 710,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1516G>T",
"hgvs_p": "p.Glu506*",
"transcript": "NM_001416107.1",
"protein_id": "NP_001403036.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 547,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.1462G>T",
"hgvs_p": "p.Glu488*",
"transcript": "NM_001416108.1",
"protein_id": "NP_001403037.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 529,
"cds_start": 1462,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2875G>T",
"hgvs_p": "p.Glu959*",
"transcript": "XM_005258937.4",
"protein_id": "XP_005258994.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2875,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 3114,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2389G>T",
"hgvs_p": "p.Glu797*",
"transcript": "XM_005258939.4",
"protein_id": "XP_005258996.2",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 838,
"cds_start": 2389,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Glu734*",
"transcript": "XM_006723218.4",
"protein_id": "XP_006723281.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 775,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Glu734*",
"transcript": "XM_047438835.1",
"protein_id": "XP_047294791.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 775,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2436,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE",
"gene_hgnc_id": 6621,
"hgvs_c": "c.2161G>T",
"hgvs_p": "p.Glu721*",
"transcript": "XM_047438836.1",
"protein_id": "XP_047294792.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 762,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 2602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.224C>A",
"hgvs_p": null,
"transcript": "ENST00000750195.1",
"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": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.187C>A",
"hgvs_p": null,
"transcript": "ENST00000750196.1",
"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": 412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.95C>A",
"hgvs_p": null,
"transcript": "ENST00000750197.1",
"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": 399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.130+4716C>A",
"hgvs_p": null,
"transcript": "ENST00000593491.4",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"verdict": "Likely_pathogenic",
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{
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"verdict": "Likely_pathogenic",
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"effects": [
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{
"score": 8,
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],
"clinvar_disease": "LIPE-related familial partial lipodystrophy,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "LIPE-related familial partial lipodystrophy|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}