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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: 7-151035654-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151035654&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151035654,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001282291.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "NM_007188.5",
"protein_id": "NP_009119.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 718,
"cds_start": 839,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": "ENST00000358849.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007188.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000358849.9",
"protein_id": "ENSP00000351717.4",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 718,
"cds_start": 839,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": "NM_007188.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358849.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000498578.5",
"protein_id": "ENSP00000418271.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 693,
"cds_start": 839,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 2350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498578.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Leu324Pro",
"transcript": "ENST00000879589.1",
"protein_id": "ENSP00000549648.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 762,
"cds_start": 971,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1047,
"cdna_end": null,
"cdna_length": 2582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879589.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Leu297Pro",
"transcript": "NM_001282291.2",
"protein_id": "NP_001269220.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 735,
"cds_start": 890,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282291.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Leu297Pro",
"transcript": "ENST00000297504.10",
"protein_id": "ENSP00000297504.6",
"transcript_support_level": 2,
"aa_start": 297,
"aa_end": null,
"aa_length": 735,
"cds_start": 890,
"cds_end": null,
"cds_length": 2208,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297504.10"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.869T>C",
"hgvs_p": "p.Leu290Pro",
"transcript": "ENST00000879590.1",
"protein_id": "ENSP00000549649.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 728,
"cds_start": 869,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 2473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879590.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000879592.1",
"protein_id": "ENSP00000549651.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 701,
"cds_start": 839,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 2383,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879592.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "NM_001282292.2",
"protein_id": "NP_001269221.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 693,
"cds_start": 839,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 4581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282292.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.683T>C",
"hgvs_p": "p.Leu228Pro",
"transcript": "ENST00000879591.1",
"protein_id": "ENSP00000549650.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 666,
"cds_start": 683,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879591.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Leu192Pro",
"transcript": "NM_001282293.2",
"protein_id": "NP_001269222.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 630,
"cds_start": 575,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282293.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.575T>C",
"hgvs_p": "p.Leu192Pro",
"transcript": "ENST00000542328.5",
"protein_id": "ENSP00000438776.1",
"transcript_support_level": 2,
"aa_start": 192,
"aa_end": null,
"aa_length": 630,
"cds_start": 575,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 4371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542328.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000477092.5",
"protein_id": "ENSP00000419558.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 431,
"cds_start": 839,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477092.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000477719.5",
"protein_id": "ENSP00000419891.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 409,
"cds_start": 839,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477719.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "c.35T>C",
"hgvs_p": "p.Leu12Pro",
"transcript": "ENST00000491920.1",
"protein_id": "ENSP00000420162.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 139,
"cds_start": 35,
"cds_end": null,
"cds_length": 420,
"cdna_start": 36,
"cdna_end": null,
"cdna_length": 717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*482T>C",
"hgvs_p": null,
"transcript": "ENST00000466514.5",
"protein_id": "ENSP00000420631.1",
"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": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000470645.5",
"protein_id": "ENSP00000420216.1",
"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": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470645.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*406T>C",
"hgvs_p": null,
"transcript": "ENST00000482309.5",
"protein_id": "ENSP00000419014.1",
"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": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482309.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*482T>C",
"hgvs_p": null,
"transcript": "ENST00000466514.5",
"protein_id": "ENSP00000420631.1",
"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": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000466514.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*441T>C",
"hgvs_p": null,
"transcript": "ENST00000470645.5",
"protein_id": "ENSP00000420216.1",
"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": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470645.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"hgvs_c": "n.*406T>C",
"hgvs_p": null,
"transcript": "ENST00000482309.5",
"protein_id": "ENSP00000419014.1",
"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": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482309.5"
}
],
"gene_symbol": "ABCB8",
"gene_hgnc_id": 49,
"dbsnp": "rs779358458",
"frequency_reference_population": 0.00002169687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 35,
"gnomad_exomes_af": 0.0000212194,
"gnomad_genomes_af": 0.0000262802,
"gnomad_exomes_ac": 31,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9749132394790649,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.843,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.577,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.041,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001282291.2",
"gene_symbol": "ABCB8",
"hgnc_id": 49,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.890T>C",
"hgvs_p": "p.Leu297Pro"
}
],
"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
}