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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: 2-219550846-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219550846&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219550846,
"ref": "C",
"alt": "T",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_015311.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5684-4G>A",
"hgvs_p": null,
"transcript": "NM_015311.3",
"protein_id": "NP_056126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1896,
"cds_start": null,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6105,
"mane_select": "ENST00000404537.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015311.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5684-4G>A",
"hgvs_p": null,
"transcript": "ENST00000404537.6",
"protein_id": "ENSP00000385636.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1896,
"cds_start": null,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6105,
"mane_select": "NM_015311.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404537.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5706G>A",
"hgvs_p": "p.Leu1902Leu",
"transcript": "XM_017003697.3",
"protein_id": "XP_016859186.1",
"transcript_support_level": null,
"aa_start": 1902,
"aa_end": null,
"aa_length": 1908,
"cds_start": 5706,
"cds_end": null,
"cds_length": 5727,
"cdna_start": 6013,
"cdna_end": null,
"cdna_length": 6131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003697.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.*396G>A",
"hgvs_p": null,
"transcript": "XM_017003696.3",
"protein_id": "XP_016859185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1908,
"cds_start": null,
"cds_end": null,
"cds_length": 5727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003696.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5696-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953546.1",
"protein_id": "ENSP00000623605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1900,
"cds_start": null,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953546.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5627-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953548.1",
"protein_id": "ENSP00000623607.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1877,
"cds_start": null,
"cds_end": null,
"cds_length": 5634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953548.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5465-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953544.1",
"protein_id": "ENSP00000623603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1823,
"cds_start": null,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5408-4G>A",
"hgvs_p": null,
"transcript": "ENST00000373876.5",
"protein_id": "ENSP00000362983.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": null,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373876.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5351-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953550.1",
"protein_id": "ENSP00000623609.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1785,
"cds_start": null,
"cds_end": null,
"cds_length": 5358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953550.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5132-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953545.1",
"protein_id": "ENSP00000623604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1712,
"cds_start": null,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.4844-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953549.1",
"protein_id": "ENSP00000623608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1616,
"cds_start": null,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953549.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.4286-4G>A",
"hgvs_p": null,
"transcript": "ENST00000953547.1",
"protein_id": "ENSP00000623606.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1430,
"cds_start": null,
"cds_end": null,
"cds_length": 4293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953547.1"
},
{
"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": 21,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5683+683G>A",
"hgvs_p": null,
"transcript": "XM_011510857.3",
"protein_id": "XP_011509159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1918,
"cds_start": null,
"cds_end": null,
"cds_length": 5757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510857.3"
},
{
"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": 19,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5407+683G>A",
"hgvs_p": null,
"transcript": "XM_017003698.2",
"protein_id": "XP_016859187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1826,
"cds_start": null,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003698.2"
},
{
"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": 19,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5407+683G>A",
"hgvs_p": null,
"transcript": "XM_017003699.2",
"protein_id": "XP_016859188.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1826,
"cds_start": null,
"cds_end": null,
"cds_length": 5481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003699.2"
},
{
"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": 18,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "c.5131+683G>A",
"hgvs_p": null,
"transcript": "XM_017003700.2",
"protein_id": "XP_016859189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1734,
"cds_start": null,
"cds_end": null,
"cds_length": 5205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7754,
"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": 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.5263G>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": 5380,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "n.577G>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": 694,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489804.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"hgvs_c": "n.549-4G>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": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000462534.5"
}
],
"gene_symbol": "OBSL1",
"gene_hgnc_id": 29092,
"dbsnp": "rs184252908",
"frequency_reference_population": 0.000021118853,
"hom_count_reference_population": 0,
"allele_count_reference_population": 34,
"gnomad_exomes_af": 0.0000137068,
"gnomad_genomes_af": 0.0000928357,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4099999964237213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.057999998331069946,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.549,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0047294931915454,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_015311.3",
"gene_symbol": "OBSL1",
"hgnc_id": 29092,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5684-4G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}