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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: 6-142424746-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142424746&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142424746,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000367609.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "NM_198569.3",
"protein_id": "NP_940971.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": "ENST00000367609.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "ENST00000367609.8",
"protein_id": "ENSP00000356581.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6822,
"mane_select": "NM_198569.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "ENST00000367608.6",
"protein_id": "ENSP00000356580.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "ENST00000230173.10",
"protein_id": "ENSP00000230173.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": -4,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "ENST00000296932.13",
"protein_id": "ENSP00000296932.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "NM_001032395.3",
"protein_id": "NP_001027567.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "NM_020455.6",
"protein_id": "NP_065188.5",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1221,
"cds_start": -4,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "NM_001032394.3",
"protein_id": "NP_001027566.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1193,
"cds_start": -4,
"cds_end": null,
"cds_length": 3582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6784,
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "n.545+4642T>C",
"hgvs_p": null,
"transcript": "ENST00000472054.2",
"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": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3322+4642T>C",
"hgvs_p": null,
"transcript": "XM_006715516.3",
"protein_id": "XP_006715579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1251,
"cds_start": -4,
"cds_end": null,
"cds_length": 3756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "XM_011535964.2",
"protein_id": "XP_011534266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1250,
"cds_start": -4,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
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"cdna_length": 6563,
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"mane_plus": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3316+4642T>C",
"hgvs_p": null,
"transcript": "XM_006715517.3",
"protein_id": "XP_006715580.1",
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"cds_start": -4,
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"cds_length": 3750,
"cdna_start": null,
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"cdna_length": 6560,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3238+4642T>C",
"hgvs_p": null,
"transcript": "XM_006715518.3",
"protein_id": "XP_006715581.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3322+4642T>C",
"hgvs_p": null,
"transcript": "XM_005267061.4",
"protein_id": "XP_005267118.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419102.1",
"protein_id": "XP_047275058.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419103.1",
"protein_id": "XP_047275059.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3232+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419104.1",
"protein_id": "XP_047275060.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3316+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419105.1",
"protein_id": "XP_047275061.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3238+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419106.1",
"protein_id": "XP_047275062.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"hgvs_c": "c.3235+4642T>C",
"hgvs_p": null,
"transcript": "XM_047419107.1",
"protein_id": "XP_047275063.1",
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"cdna_start": null,
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"mane_select": null,
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"feature": null
}
],
"gene_symbol": "ADGRG6",
"gene_hgnc_id": 13841,
"dbsnp": "rs7753012",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9300000071525574,
"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": -0.93,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.008,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367609.8",
"gene_symbol": "ADGRG6",
"hgnc_id": 13841,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3319+4642T>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}