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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: 2-219551559-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219551559&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219551559,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015311.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5653G>A",
"hgvs_p": "p.Asp1885Asn",
"transcript": "NM_015311.3",
"protein_id": "NP_056126.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 1896,
"cds_start": 5653,
"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": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5653G>A",
"hgvs_p": "p.Asp1885Asn",
"transcript": "ENST00000404537.6",
"protein_id": "ENSP00000385636.1",
"transcript_support_level": 1,
"aa_start": 1885,
"aa_end": null,
"aa_length": 1896,
"cds_start": 5653,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5665G>A",
"hgvs_p": "p.Asp1889Asn",
"transcript": "ENST00000953546.1",
"protein_id": "ENSP00000623605.1",
"transcript_support_level": null,
"aa_start": 1889,
"aa_end": null,
"aa_length": 1900,
"cds_start": 5665,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5596G>A",
"hgvs_p": "p.Asp1866Asn",
"transcript": "ENST00000953548.1",
"protein_id": "ENSP00000623607.1",
"transcript_support_level": null,
"aa_start": 1866,
"aa_end": null,
"aa_length": 1877,
"cds_start": 5596,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5434G>A",
"hgvs_p": "p.Asp1812Asn",
"transcript": "ENST00000953544.1",
"protein_id": "ENSP00000623603.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 1823,
"cds_start": 5434,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5377G>A",
"hgvs_p": "p.Asp1793Asn",
"transcript": "ENST00000373876.5",
"protein_id": "ENSP00000362983.1",
"transcript_support_level": 5,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1804,
"cds_start": 5377,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5320G>A",
"hgvs_p": "p.Asp1774Asn",
"transcript": "ENST00000953550.1",
"protein_id": "ENSP00000623609.1",
"transcript_support_level": null,
"aa_start": 1774,
"aa_end": null,
"aa_length": 1785,
"cds_start": 5320,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5101G>A",
"hgvs_p": "p.Asp1701Asn",
"transcript": "ENST00000953545.1",
"protein_id": "ENSP00000623604.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 1712,
"cds_start": 5101,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4813G>A",
"hgvs_p": "p.Asp1605Asn",
"transcript": "ENST00000953549.1",
"protein_id": "ENSP00000623608.1",
"transcript_support_level": null,
"aa_start": 1605,
"aa_end": null,
"aa_length": 1616,
"cds_start": 4813,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4255G>A",
"hgvs_p": "p.Asp1419Asn",
"transcript": "ENST00000953547.1",
"protein_id": "ENSP00000623606.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1430,
"cds_start": 4255,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5653G>A",
"hgvs_p": "p.Asp1885Asn",
"transcript": "XM_011510857.3",
"protein_id": "XP_011509159.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 1918,
"cds_start": 5653,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5653G>A",
"hgvs_p": "p.Asp1885Asn",
"transcript": "XM_017003696.3",
"protein_id": "XP_016859185.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5653,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5653G>A",
"hgvs_p": "p.Asp1885Asn",
"transcript": "XM_017003697.3",
"protein_id": "XP_016859186.1",
"transcript_support_level": null,
"aa_start": 1885,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5653,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5377G>A",
"hgvs_p": "p.Asp1793Asn",
"transcript": "XM_017003698.2",
"protein_id": "XP_016859187.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1826,
"cds_start": 5377,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5377G>A",
"hgvs_p": "p.Asp1793Asn",
"transcript": "XM_017003699.2",
"protein_id": "XP_016859188.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1826,
"cds_start": 5377,
"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": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.5101G>A",
"hgvs_p": "p.Asp1701Asn",
"transcript": "XM_017003700.2",
"protein_id": "XP_016859189.1",
"transcript_support_level": null,
"aa_start": 1701,
"aa_end": null,
"aa_length": 1734,
"cds_start": 5101,
"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.518G>A",
"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.4550G>A",
"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.524G>A",
"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": "rs747903787",
"frequency_reference_population": 6.907661e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.90766e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4521206319332123,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.246,
"revel_prediction": "Benign",
"alphamissense_score": 0.1477,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.463,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015311.3",
"gene_symbol": "OBSL1",
"hgnc_id": 29092,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5653G>A",
"hgvs_p": "p.Asp1885Asn"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}