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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: 17-1872485-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1872485&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 1872485,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002945.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "NM_002945.5",
"protein_id": "NP_002936.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 616,
"cds_start": 413,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254719.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002945.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000254719.10",
"protein_id": "ENSP00000254719.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 616,
"cds_start": 413,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002945.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254719.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ala185Val",
"transcript": "ENST00000852058.1",
"protein_id": "ENSP00000522117.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 663,
"cds_start": 554,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852058.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000852055.1",
"protein_id": "ENSP00000522114.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 647,
"cds_start": 506,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852055.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Ala161Val",
"transcript": "ENST00000852057.1",
"protein_id": "ENSP00000522116.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 639,
"cds_start": 482,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852057.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.425C>T",
"hgvs_p": "p.Ala142Val",
"transcript": "ENST00000852060.1",
"protein_id": "ENSP00000522119.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 620,
"cds_start": 425,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852060.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.410C>T",
"hgvs_p": "p.Ala137Val",
"transcript": "ENST00000933416.1",
"protein_id": "ENSP00000603475.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 615,
"cds_start": 410,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933416.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000852063.1",
"protein_id": "ENSP00000522122.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 614,
"cds_start": 413,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852063.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ala134Val",
"transcript": "ENST00000852064.1",
"protein_id": "ENSP00000522123.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 612,
"cds_start": 401,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852064.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000933417.1",
"protein_id": "ENSP00000603476.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 606,
"cds_start": 413,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933417.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ala125Val",
"transcript": "NM_001355120.2",
"protein_id": "NP_001342049.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 603,
"cds_start": 374,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355120.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000933418.1",
"protein_id": "ENSP00000603477.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 600,
"cds_start": 413,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933418.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000852062.1",
"protein_id": "ENSP00000522121.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 580,
"cds_start": 413,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852062.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "NM_001355121.2",
"protein_id": "NP_001342050.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 557,
"cds_start": 413,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355121.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000852061.1",
"protein_id": "ENSP00000522120.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 521,
"cds_start": 413,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852061.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val",
"transcript": "ENST00000933419.1",
"protein_id": "ENSP00000603478.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 463,
"cds_start": 413,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933419.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Ala125Val",
"transcript": "ENST00000570451.5",
"protein_id": "ENSP00000459788.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 152,
"cds_start": 374,
"cds_end": null,
"cds_length": 460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570451.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.503-3176C>T",
"hgvs_p": null,
"transcript": "ENST00000962481.1",
"protein_id": "ENSP00000632540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": null,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962481.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.362-3176C>T",
"hgvs_p": null,
"transcript": "ENST00000852056.1",
"protein_id": "ENSP00000522115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852056.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.164-6749C>T",
"hgvs_p": null,
"transcript": "ENST00000933420.1",
"protein_id": "ENSP00000603479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933420.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.34-6508C>T",
"hgvs_p": null,
"transcript": "ENST00000852059.1",
"protein_id": "ENSP00000522118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 397,
"cds_start": null,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "n.137C>T",
"hgvs_p": null,
"transcript": "ENST00000573924.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000573924.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"hgvs_c": "c.*2C>T",
"hgvs_p": null,
"transcript": "ENST00000571058.5",
"protein_id": "ENSP00000461733.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": null,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571058.5"
}
],
"gene_symbol": "RPA1",
"gene_hgnc_id": 10289,
"dbsnp": "rs1913411066",
"frequency_reference_population": 0.0000024784222,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.84094e-7,
"gnomad_genomes_af": 0.0000197184,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05370914936065674,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.2199999988079071,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.0706,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.205,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.22,
"spliceai_max_prediction": "Uncertain_significance",
"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_002945.5",
"gene_symbol": "RPA1",
"hgnc_id": 10289,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.413C>T",
"hgvs_p": "p.Ala138Val"
}
],
"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
}