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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: 19-42401821-CC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42401821&ref=CC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "LIPE",
"hgnc_id": 6621,
"hgvs_c": "c.3221_3222delGGinsCA",
"hgvs_p": "p.Gly1074Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_005357.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LIPE-AS1",
"hgnc_id": 48589,
"hgvs_c": "n.105_106delCCinsTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000750195.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101930071",
"hgnc_id": null,
"hgvs_c": "n.97+4597_97+4598delCCinsTG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_126041.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "G",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 3461,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005357.4",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.3221_3222delGGinsCA",
"hgvs_p": "p.Gly1074Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244289.9",
"protein_coding": true,
"protein_id": "NP_005348.2",
"strand": false,
"transcript": "NM_005357.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1076,
"aa_ref": "G",
"aa_start": 1074,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 3461,
"cds_end": null,
"cds_length": 3231,
"cds_start": 3221,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000244289.9",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.3221_3222delGGinsCA",
"hgvs_p": "p.Gly1074Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005357.4",
"protein_coding": true,
"protein_id": "ENSP00000244289.3",
"strand": false,
"transcript": "ENST00000244289.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000594624.8",
"gene_hgnc_id": 48589,
"gene_symbol": "LIPE-AS1",
"hgvs_c": "n.105+4597_105+4598delCCinsTG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000594624.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1084,
"aa_ref": "G",
"aa_start": 1082,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 3246,
"cds_end": null,
"cds_length": 3255,
"cds_start": 3245,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599918.2",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.3245_3246delGGinsCA",
"hgvs_p": "p.Gly1082Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472218.2",
"strand": false,
"transcript": "ENST00000599918.2",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "G",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2993,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000597620.6",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2993_2994delGGinsCA",
"hgvs_p": "p.Gly998Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469545.2",
"strand": false,
"transcript": "ENST00000597620.6",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 826,
"aa_ref": "G",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2828,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 2481,
"cds_start": 2471,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416100.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2471_2472delGGinsCA",
"hgvs_p": "p.Gly824Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403029.1",
"strand": false,
"transcript": "NM_001416100.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 821,
"aa_ref": "G",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2813,
"cdna_start": 2506,
"cds_end": null,
"cds_length": 2466,
"cds_start": 2456,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416101.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2456_2457delGGinsCA",
"hgvs_p": "p.Gly819Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403030.1",
"strand": false,
"transcript": "NM_001416101.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 786,
"aa_ref": "G",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 2388,
"cds_end": null,
"cds_length": 2361,
"cds_start": 2351,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416102.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2351_2352delGGinsCA",
"hgvs_p": "p.Gly784Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403031.1",
"strand": false,
"transcript": "NM_001416102.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416103.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2318_2319delGGinsCA",
"hgvs_p": "p.Gly773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403032.1",
"strand": false,
"transcript": "NM_001416103.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416104.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2318_2319delGGinsCA",
"hgvs_p": "p.Gly773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403033.1",
"strand": false,
"transcript": "NM_001416104.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 745,
"aa_ref": "G",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 2278,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2228,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416105.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2228_2229delGGinsCA",
"hgvs_p": "p.Gly743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403034.1",
"strand": false,
"transcript": "NM_001416105.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 710,
"aa_ref": "G",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 2160,
"cds_end": null,
"cds_length": 2133,
"cds_start": 2123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416106.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2123_2124delGGinsCA",
"hgvs_p": "p.Gly708Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403035.1",
"strand": false,
"transcript": "NM_001416106.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 547,
"aa_ref": "G",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416107.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.1634_1635delGGinsCA",
"hgvs_p": "p.Gly545Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403036.1",
"strand": false,
"transcript": "NM_001416107.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 529,
"aa_ref": "G",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001416108.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.1580_1581delGGinsCA",
"hgvs_p": "p.Gly527Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001403037.1",
"strand": false,
"transcript": "NM_001416108.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "G",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 3233,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2993,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258937.4",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2993_2994delGGinsCA",
"hgvs_p": "p.Gly998Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258994.1",
"strand": false,
"transcript": "XM_005258937.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 838,
"aa_ref": "G",
"aa_start": 836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 2523,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2507,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005258939.4",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2507_2508delGGinsCA",
"hgvs_p": "p.Gly836Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258996.2",
"strand": false,
"transcript": "XM_005258939.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006723218.4",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2318_2319delGGinsCA",
"hgvs_p": "p.Gly773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723281.1",
"strand": false,
"transcript": "XM_006723218.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 775,
"aa_ref": "G",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2862,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2318,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438835.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2318_2319delGGinsCA",
"hgvs_p": "p.Gly773Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294791.1",
"strand": false,
"transcript": "XM_047438835.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 762,
"aa_ref": "G",
"aa_start": 760,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2602,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 2289,
"cds_start": 2279,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438836.1",
"gene_hgnc_id": 6621,
"gene_symbol": "LIPE",
"hgvs_c": "c.2279_2280delGGinsCA",
"hgvs_p": "p.Gly760Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294792.1",
"strand": false,
"transcript": "XM_047438836.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 488,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000750195.1",
"gene_hgnc_id": 48589,
"gene_symbol": "LIPE-AS1",
"hgvs_c": "n.105_106delCCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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