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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: 11-20783740-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=20783740&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NELL1",
"hgnc_id": 7750,
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001288713.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 1191159,
"alphamissense_prediction": null,
"alphamissense_score": 0.0762,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 8.067142402978789e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2433,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006157.5",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357134.10",
"protein_coding": true,
"protein_id": "NP_006148.2",
"strand": true,
"transcript": "NM_006157.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 810,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3235,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2433,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000357134.10",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006157.5",
"protein_coding": true,
"protein_id": "ENSP00000349654.5",
"strand": true,
"transcript": "ENST00000357134.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 763,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 308,
"cds_end": null,
"cds_length": 2292,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532434.5",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437170.1",
"strand": true,
"transcript": "ENST00000532434.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 838,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3354,
"cdna_start": 502,
"cds_end": null,
"cds_length": 2517,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001288713.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275642.1",
"strand": true,
"transcript": "NM_001288713.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 838,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": 482,
"cds_end": null,
"cds_length": 2517,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000298925.9",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.329G>A",
"hgvs_p": "p.Arg110Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298925.5",
"strand": true,
"transcript": "ENST00000298925.9",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 411,
"cds_end": null,
"cds_length": 2493,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918540.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588599.1",
"strand": true,
"transcript": "ENST00000918540.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 816,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3035,
"cdna_start": 397,
"cds_end": null,
"cds_length": 2451,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963666.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633725.1",
"strand": true,
"transcript": "ENST00000963666.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 783,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 383,
"cds_end": null,
"cds_length": 2352,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000860940.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530999.1",
"strand": true,
"transcript": "ENST00000860940.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 763,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2292,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_201551.2",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963845.1",
"strand": true,
"transcript": "NM_201551.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2262,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001288714.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275643.1",
"strand": true,
"transcript": "NM_001288714.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 753,
"aa_ref": "R",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2262,
"cds_start": 245,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000325319.9",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "c.245G>A",
"hgvs_p": "p.Arg82Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317837.5",
"strand": true,
"transcript": "ENST00000325319.9",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 256,
"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": "ENST00000524738.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "n.72G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000524738.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527873.5",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "n.266G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000527873.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 582,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000528046.5",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "n.428G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528046.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000529595.1",
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"hgvs_c": "n.133G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000529595.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs8176785",
"effect": "missense_variant",
"frequency_reference_population": 0.73829854,
"gene_hgnc_id": 7750,
"gene_symbol": "NELL1",
"gnomad_exomes_ac": 1094656,
"gnomad_exomes_af": 0.749048,
"gnomad_exomes_homalt": 415156,
"gnomad_genomes_ac": 96503,
"gnomad_genomes_af": 0.634938,
"gnomad_genomes_homalt": 34060,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 449216,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 3.456,
"pos": 20783740,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.084,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001288713.1"
}
]
}