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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: 2-219551621-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219551621&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219551621,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_015311.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs",
"transcript": "NM_015311.3",
"protein_id": "NP_056126.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1896,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404537.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015311.3"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs",
"transcript": "ENST00000404537.6",
"protein_id": "ENSP00000385636.1",
"transcript_support_level": 1,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1896,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015311.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404537.6"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5602dupA",
"hgvs_p": "p.Ser1868fs",
"transcript": "ENST00000953546.1",
"protein_id": "ENSP00000623605.1",
"transcript_support_level": null,
"aa_start": 1868,
"aa_end": null,
"aa_length": 1900,
"cds_start": 5602,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953546.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5533dupA",
"hgvs_p": "p.Ser1845fs",
"transcript": "ENST00000953548.1",
"protein_id": "ENSP00000623607.1",
"transcript_support_level": null,
"aa_start": 1845,
"aa_end": null,
"aa_length": 1877,
"cds_start": 5533,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953548.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5371dupA",
"hgvs_p": "p.Ser1791fs",
"transcript": "ENST00000953544.1",
"protein_id": "ENSP00000623603.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5371,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953544.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5314dupA",
"hgvs_p": "p.Ser1772fs",
"transcript": "ENST00000373876.5",
"protein_id": "ENSP00000362983.1",
"transcript_support_level": 5,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1804,
"cds_start": 5314,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373876.5"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5257dupA",
"hgvs_p": "p.Ser1753fs",
"transcript": "ENST00000953550.1",
"protein_id": "ENSP00000623609.1",
"transcript_support_level": null,
"aa_start": 1753,
"aa_end": null,
"aa_length": 1785,
"cds_start": 5257,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953550.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5038dupA",
"hgvs_p": "p.Ser1680fs",
"transcript": "ENST00000953545.1",
"protein_id": "ENSP00000623604.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1712,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953545.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.4750dupA",
"hgvs_p": "p.Ser1584fs",
"transcript": "ENST00000953549.1",
"protein_id": "ENSP00000623608.1",
"transcript_support_level": null,
"aa_start": 1584,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4750,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953549.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.4192dupA",
"hgvs_p": "p.Ser1398fs",
"transcript": "ENST00000953547.1",
"protein_id": "ENSP00000623606.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953547.1"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs",
"transcript": "XM_011510857.3",
"protein_id": "XP_011509159.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1918,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510857.3"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs",
"transcript": "XM_017003696.3",
"protein_id": "XP_016859185.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003696.3"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs",
"transcript": "XM_017003697.3",
"protein_id": "XP_016859186.1",
"transcript_support_level": null,
"aa_start": 1864,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5590,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003697.3"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5314dupA",
"hgvs_p": "p.Ser1772fs",
"transcript": "XM_017003698.2",
"protein_id": "XP_016859187.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1826,
"cds_start": 5314,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003698.2"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5314dupA",
"hgvs_p": "p.Ser1772fs",
"transcript": "XM_017003699.2",
"protein_id": "XP_016859188.1",
"transcript_support_level": null,
"aa_start": 1772,
"aa_end": null,
"aa_length": 1826,
"cds_start": 5314,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003699.2"
},
{
"aa_ref": "S",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5038dupA",
"hgvs_p": "p.Ser1680fs",
"transcript": "XM_017003700.2",
"protein_id": "XP_016859189.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1734,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003700.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "n.455dupA",
"hgvs_p": null,
"transcript": "ENST00000462534.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462534.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "n.4487dupA",
"hgvs_p": null,
"transcript": "ENST00000465149.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000465149.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "n.461dupA",
"hgvs_p": null,
"transcript": "ENST00000489804.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489804.5"
}
],
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"dbsnp": "rs750568728",
"frequency_reference_population": 0.000012410875,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000123347,
"gnomad_genomes_af": 0.0000131416,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.169,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_015311.3",
"gene_symbol": "OBSL1",
"hgnc_id": 29092,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5590dupA",
"hgvs_p": "p.Ser1864fs"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}