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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: 6-30583509-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30583509&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ABCF1",
"hgnc_id": 70,
"hgvs_c": "c.916-99A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001025091.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 879381,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7099999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 845,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": null,
"cds_end": null,
"cds_length": 2538,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001025091.2",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.916-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000326195.13",
"protein_coding": true,
"protein_id": "NP_001020262.1",
"strand": true,
"transcript": "NM_001025091.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 845,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": null,
"cds_end": null,
"cds_length": 2538,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326195.13",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.916-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001025091.2",
"protein_coding": true,
"protein_id": "ENSP00000313603.8",
"strand": true,
"transcript": "ENST00000326195.13",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3131,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376545.7",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.802-99A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365728.3",
"strand": true,
"transcript": "ENST00000376545.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475993.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "n.166-99A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445100.1",
"strand": true,
"transcript": "ENST00000475993.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 878,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3277,
"cdna_start": null,
"cds_end": null,
"cds_length": 2637,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915359.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.919-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585418.1",
"strand": true,
"transcript": "ENST00000915359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441867.6",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.919-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405512.2",
"strand": true,
"transcript": "ENST00000441867.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 841,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3368,
"cdna_start": null,
"cds_end": null,
"cds_length": 2526,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896197.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.916-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566256.1",
"strand": true,
"transcript": "ENST00000896197.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 839,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3164,
"cdna_start": null,
"cds_end": null,
"cds_length": 2520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915358.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.916-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585417.1",
"strand": true,
"transcript": "ENST00000915358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 839,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": null,
"cds_end": null,
"cds_length": 2520,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971698.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.919-99A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641757.1",
"strand": true,
"transcript": "ENST00000971698.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 821,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": null,
"cds_end": null,
"cds_length": 2466,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896196.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.844-99A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566255.1",
"strand": true,
"transcript": "ENST00000896196.1",
"transcript_support_level": null
},
{
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"aa_length": 820,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000896199.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.841-99A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566258.1",
"strand": true,
"transcript": "ENST00000896199.1",
"transcript_support_level": null
},
{
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"aa_length": 818,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3092,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000971699.1",
"gene_hgnc_id": 70,
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"hgvs_c": "c.919-99A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641758.1",
"strand": true,
"transcript": "ENST00000971699.1",
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},
{
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"cdna_start": null,
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],
"exon_count": 24,
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"feature": "ENST00000915355.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.811-99A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585414.1",
"strand": true,
"transcript": "ENST00000915355.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2430,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000915357.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.811-99A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585416.1",
"strand": true,
"transcript": "ENST00000915357.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000971696.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.808-99A>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641755.1",
"strand": true,
"transcript": "ENST00000971696.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
"cds_length": 2427,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896198.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.805-99A>G",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566257.1",
"strand": true,
"transcript": "ENST00000896198.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001090.3",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.802-99A>G",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001081.1",
"strand": true,
"transcript": "NM_001090.3",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000915356.1",
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"protein_coding": true,
"protein_id": "ENSP00000585415.1",
"strand": true,
"transcript": "ENST00000915356.1",
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},
{
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"canonical": false,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971697.1",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.688-99A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641756.1",
"strand": true,
"transcript": "ENST00000971697.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000468958.2",
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"hgvs_c": "c.625-99A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440893.2",
"strand": true,
"transcript": "ENST00000468958.2",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1264440",
"effect": "intron_variant",
"frequency_reference_population": 0.68890333,
"gene_hgnc_id": 70,
"gene_symbol": "ABCF1",
"gnomad_exomes_ac": 774250,
"gnomad_exomes_af": 0.688514,
"gnomad_exomes_homalt": 268815,
"gnomad_genomes_ac": 105131,
"gnomad_genomes_af": 0.691788,
"gnomad_genomes_homalt": 36513,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 305328,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.184,
"pos": 30583509,
"ref": "A",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001025091.2"
}
]
}