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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: 17-9969451-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=9969451&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 9969451,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000432992.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.471+226T>C",
"hgvs_p": null,
"transcript": "NM_201433.2",
"protein_id": "NP_958839.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8269,
"mane_select": "ENST00000432992.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.471+226T>C",
"hgvs_p": null,
"transcript": "ENST00000432992.7",
"protein_id": "ENSP00000407552.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8269,
"mane_select": "NM_201433.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.291+226T>C",
"hgvs_p": null,
"transcript": "ENST00000323816.8",
"protein_id": "ENSP00000322608.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.291+226T>C",
"hgvs_p": null,
"transcript": "ENST00000585266.5",
"protein_id": "ENSP00000464240.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "ENST00000437099.6",
"protein_id": "ENSP00000410108.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "ENST00000542249.5",
"protein_id": "ENSP00000443265.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "ENST00000579158.5",
"protein_id": "ENSP00000463527.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.291+226T>C",
"hgvs_p": null,
"transcript": "NM_201432.2",
"protein_id": "NP_958836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "NM_001130831.2",
"protein_id": "NP_001124303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "ENST00000396115.6",
"protein_id": "ENSP00000379421.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": -4,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "ENST00000584146.6",
"protein_id": "ENSP00000462304.2",
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"aa_start": null,
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"aa_length": 178,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "GAS7",
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"hgvs_c": "c.279+226T>C",
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"transcript": "ENST00000578599.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "GAS7",
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"hgvs_c": "c.279+226T>C",
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"transcript": "ENST00000584389.5",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
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"transcript": "ENST00000580043.1",
"protein_id": "ENSP00000463551.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "GAS7",
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"hgvs_c": "n.432-10196T>C",
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"transcript": "ENST00000578655.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "n.269-22468T>C",
"hgvs_p": null,
"transcript": "ENST00000579140.5",
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},
{
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],
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"gene_symbol": "GAS7",
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"hgvs_c": "c.366+226T>C",
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"transcript": "XM_047436953.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "XM_005256831.5",
"protein_id": "XP_005256888.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 4,
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"gene_symbol": "GAS7",
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"hgvs_c": "c.279+226T>C",
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"transcript": "XM_005256832.5",
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],
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],
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"gene_symbol": "GAS7",
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},
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"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "GAS7",
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"hgvs_c": "c.279+226T>C",
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"transcript": "XM_047436955.1",
"protein_id": "XP_047292911.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "XM_047436956.1",
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},
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.279+226T>C",
"hgvs_p": null,
"transcript": "XM_047436957.1",
"protein_id": "XP_047292913.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 412,
"cds_start": -4,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"hgvs_c": "c.103-10196T>C",
"hgvs_p": null,
"transcript": "XM_047436958.1",
"protein_id": "XP_047292914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GAS7",
"gene_hgnc_id": 4169,
"dbsnp": "rs2277689",
"frequency_reference_population": 0.7995923,
"hom_count_reference_population": 49305,
"allele_count_reference_population": 121594,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.799592,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 121594,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 49305,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.019,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000432992.7",
"gene_symbol": "GAS7",
"hgnc_id": 4169,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.471+226T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}