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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: 1-211975070-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211975070&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 211975070,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000366994.8",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "NM_015434.4",
"protein_id": "NP_056249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": "ENST00000366994.8",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "ENST00000366994.8",
"protein_id": "ENSP00000355961.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 962,
"cds_start": -4,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4430,
"mane_select": "NM_015434.4",
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "ENST00000366993.7",
"protein_id": "ENSP00000355960.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "n.*1585+96C>T",
"hgvs_p": null,
"transcript": "ENST00000469606.5",
"protein_id": "ENSP00000481687.1",
"transcript_support_level": 1,
"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": 4447,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "NM_001199811.2",
"protein_id": "NP_001186740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": -4,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4388,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "NM_001199812.2",
"protein_id": "NP_001186741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": -4,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4370,
"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": 20,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1815+96C>T",
"hgvs_p": null,
"transcript": "ENST00000366992.7",
"protein_id": "ENSP00000355959.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 942,
"cds_start": -4,
"cds_end": null,
"cds_length": 2829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3380,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1668+96C>T",
"hgvs_p": null,
"transcript": "NM_001199809.2",
"protein_id": "NP_001186738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4283,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1668+96C>T",
"hgvs_p": null,
"transcript": "ENST00000440600.6",
"protein_id": "ENSP00000388908.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 913,
"cds_start": -4,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "n.177+96C>T",
"hgvs_p": null,
"transcript": "ENST00000461212.5",
"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": 820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "n.282+96C>T",
"hgvs_p": null,
"transcript": "ENST00000475798.5",
"protein_id": "ENSP00000483346.1",
"transcript_support_level": 5,
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "n.1969+96C>T",
"hgvs_p": null,
"transcript": "NR_037667.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4464,
"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": 19,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"hgvs_c": "c.1608+1512C>T",
"hgvs_p": null,
"transcript": "XM_047417179.1",
"protein_id": "XP_047273135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 893,
"cds_start": -4,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "INTS7",
"gene_hgnc_id": 24484,
"dbsnp": "rs41502452",
"frequency_reference_population": 0.000007620615,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000472297,
"gnomad_genomes_af": 0.0000197182,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.832,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000366994.8",
"gene_symbol": "INTS7",
"hgnc_id": 24484,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1815+96C>T",
"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
}