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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: 19-42402058-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42402058&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42402058,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000244289.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2985C>T",
"hgvs_p": "p.Pro995Pro",
"transcript": "NM_005357.4",
"protein_id": "NP_005348.2",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2985,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3224,
"cdna_end": null,
"cdna_length": 3768,
"mane_select": "ENST00000244289.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2985C>T",
"hgvs_p": "p.Pro995Pro",
"transcript": "ENST00000244289.9",
"protein_id": "ENSP00000244289.3",
"transcript_support_level": 1,
"aa_start": 995,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2985,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 3224,
"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+4834G>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": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.3009C>T",
"hgvs_p": "p.Pro1003Pro",
"transcript": "ENST00000599918.2",
"protein_id": "ENSP00000472218.2",
"transcript_support_level": 5,
"aa_start": 1003,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3009,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3009,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2757C>T",
"hgvs_p": "p.Pro919Pro",
"transcript": "ENST00000597620.6",
"protein_id": "ENSP00000469545.2",
"transcript_support_level": 3,
"aa_start": 919,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2757,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 3318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2235C>T",
"hgvs_p": "p.Pro745Pro",
"transcript": "NM_001416100.1",
"protein_id": "NP_001403029.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 826,
"cds_start": 2235,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2220C>T",
"hgvs_p": "p.Pro740Pro",
"transcript": "NM_001416101.1",
"protein_id": "NP_001403030.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 821,
"cds_start": 2220,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2269,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2115C>T",
"hgvs_p": "p.Pro705Pro",
"transcript": "NM_001416102.1",
"protein_id": "NP_001403031.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 786,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 2695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2082C>T",
"hgvs_p": "p.Pro694Pro",
"transcript": "NM_001416103.1",
"protein_id": "NP_001403032.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 775,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2082C>T",
"hgvs_p": "p.Pro694Pro",
"transcript": "NM_001416104.1",
"protein_id": "NP_001403033.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 775,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1992C>T",
"hgvs_p": "p.Pro664Pro",
"transcript": "NM_001416105.1",
"protein_id": "NP_001403034.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 745,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 2585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1887C>T",
"hgvs_p": "p.Pro629Pro",
"transcript": "NM_001416106.1",
"protein_id": "NP_001403035.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 710,
"cds_start": 1887,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1398C>T",
"hgvs_p": "p.Pro466Pro",
"transcript": "NM_001416107.1",
"protein_id": "NP_001403036.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 547,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1505,
"cdna_end": null,
"cdna_length": 2049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1344C>T",
"hgvs_p": "p.Pro448Pro",
"transcript": "NM_001416108.1",
"protein_id": "NP_001403037.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 529,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 2427,
"cdna_end": null,
"cdna_length": 2971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2757C>T",
"hgvs_p": "p.Pro919Pro",
"transcript": "XM_005258937.4",
"protein_id": "XP_005258994.1",
"transcript_support_level": null,
"aa_start": 919,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2757,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 3540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2271C>T",
"hgvs_p": "p.Pro757Pro",
"transcript": "XM_005258939.4",
"protein_id": "XP_005258996.2",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 838,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2082C>T",
"hgvs_p": "p.Pro694Pro",
"transcript": "XM_006723218.4",
"protein_id": "XP_006723281.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 775,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2387,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2082C>T",
"hgvs_p": "p.Pro694Pro",
"transcript": "XM_047438835.1",
"protein_id": "XP_047294791.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 775,
"cds_start": 2082,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2318,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2043C>T",
"hgvs_p": "p.Pro681Pro",
"transcript": "XM_047438836.1",
"protein_id": "XP_047294792.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 762,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2058,
"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": [
"splice_region_variant",
"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.213G>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": [
"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.94G>A",
"hgvs_p": null,
"transcript": "ENST00000750198.1",
"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": 440,
"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+4834G>A",
"hgvs_p": null,
"transcript": "ENST00000593491.4",
"protein_id": null,
"transcript_support_level": 2,
"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": 337,
"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.77+4834G>A",
"hgvs_p": null,
"transcript": "ENST00000597203.2",
"protein_id": null,
"transcript_support_level": 4,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.218,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
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"BP7"
],
"verdict": "Benign",
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"effects": [
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{
"score": -10,
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"verdict": "Benign",
"transcript": "ENST00000750197.1",
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"effects": [
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"inheritance_mode": "",
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{
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"verdict": "Benign",
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"effects": [
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],
"clinvar_disease": "LIPE-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|not provided|LIPE-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}