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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: 2-219551568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219551568&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "OBSL1",
"hgnc_id": 29092,
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015311.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.1872,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43736591935157776,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1896,
"aa_ref": "A",
"aa_start": 1882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6105,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 5691,
"cds_start": 5644,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_015311.3",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000404537.6",
"protein_coding": true,
"protein_id": "NP_056126.1",
"strand": false,
"transcript": "NM_015311.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1896,
"aa_ref": "A",
"aa_start": 1882,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6105,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 5691,
"cds_start": 5644,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000404537.6",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015311.3",
"protein_coding": true,
"protein_id": "ENSP00000385636.1",
"strand": false,
"transcript": "ENST00000404537.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1900,
"aa_ref": "A",
"aa_start": 1886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6115,
"cdna_start": 5961,
"cds_end": null,
"cds_length": 5703,
"cds_start": 5656,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000953546.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5656G>A",
"hgvs_p": "p.Ala1886Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623605.1",
"strand": false,
"transcript": "ENST00000953546.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1877,
"aa_ref": "A",
"aa_start": 1863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6007,
"cdna_start": 5854,
"cds_end": null,
"cds_length": 5634,
"cds_start": 5587,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000953548.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5587G>A",
"hgvs_p": "p.Ala1863Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623607.1",
"strand": false,
"transcript": "ENST00000953548.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1823,
"aa_ref": "A",
"aa_start": 1809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5958,
"cdna_start": 5804,
"cds_end": null,
"cds_length": 5472,
"cds_start": 5425,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953544.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5425G>A",
"hgvs_p": "p.Ala1809Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623603.1",
"strand": false,
"transcript": "ENST00000953544.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1804,
"aa_ref": "A",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5503,
"cdna_start": 5377,
"cds_end": null,
"cds_length": 5415,
"cds_start": 5368,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000373876.5",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5368G>A",
"hgvs_p": "p.Ala1790Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362983.1",
"strand": false,
"transcript": "ENST00000373876.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1785,
"aa_ref": "A",
"aa_start": 1771,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5528,
"cdna_start": 5375,
"cds_end": null,
"cds_length": 5358,
"cds_start": 5311,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000953550.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5311G>A",
"hgvs_p": "p.Ala1771Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623609.1",
"strand": false,
"transcript": "ENST00000953550.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1712,
"aa_ref": "A",
"aa_start": 1698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5570,
"cdna_start": 5415,
"cds_end": null,
"cds_length": 5139,
"cds_start": 5092,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000953545.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5092G>A",
"hgvs_p": "p.Ala1698Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623604.1",
"strand": false,
"transcript": "ENST00000953545.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "A",
"aa_start": 1602,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5171,
"cdna_start": 5018,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4804,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000953549.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.4804G>A",
"hgvs_p": "p.Ala1602Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623608.1",
"strand": false,
"transcript": "ENST00000953549.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "A",
"aa_start": 1416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": 4547,
"cds_end": null,
"cds_length": 4293,
"cds_start": 4246,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000953547.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.4246G>A",
"hgvs_p": "p.Ala1416Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623606.1",
"strand": false,
"transcript": "ENST00000953547.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1918,
"aa_ref": "A",
"aa_start": 1882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 5757,
"cds_start": 5644,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_011510857.3",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509159.1",
"strand": false,
"transcript": "XM_011510857.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1908,
"aa_ref": "A",
"aa_start": 1882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6548,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 5727,
"cds_start": 5644,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017003696.3",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859185.1",
"strand": false,
"transcript": "XM_017003696.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1908,
"aa_ref": "A",
"aa_start": 1882,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6131,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 5727,
"cds_start": 5644,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017003697.3",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5644G>A",
"hgvs_p": "p.Ala1882Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859186.1",
"strand": false,
"transcript": "XM_017003697.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1826,
"aa_ref": "A",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8030,
"cdna_start": 5675,
"cds_end": null,
"cds_length": 5481,
"cds_start": 5368,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017003698.2",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5368G>A",
"hgvs_p": "p.Ala1790Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859187.1",
"strand": false,
"transcript": "XM_017003698.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1826,
"aa_ref": "A",
"aa_start": 1790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8030,
"cdna_start": 5675,
"cds_end": null,
"cds_length": 5481,
"cds_start": 5368,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "XM_017003699.2",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5368G>A",
"hgvs_p": "p.Ala1790Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859188.1",
"strand": false,
"transcript": "XM_017003699.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1734,
"aa_ref": "A",
"aa_start": 1698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7754,
"cdna_start": 5399,
"cds_end": null,
"cds_length": 5205,
"cds_start": 5092,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "XM_017003700.2",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "c.5092G>A",
"hgvs_p": "p.Ala1698Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859189.1",
"strand": false,
"transcript": "XM_017003700.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 662,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000462534.5",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "n.509G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000462534.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000465149.1",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "n.4541G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465149.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 694,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000489804.5",
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"hgvs_c": "n.515G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000489804.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368898845",
"effect": "missense_variant",
"frequency_reference_population": 0.000028056018,
"gene_hgnc_id": 29092,
"gene_symbol": "OBSL1",
"gnomad_exomes_ac": 17,
"gnomad_exomes_af": 0.0000117112,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 28,
"gnomad_genomes_af": 0.000183802,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.856,
"pos": 219551568,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.475,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015311.3"
}
]
}