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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: 4-98343151-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=98343151&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 98343151,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001100426.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "NM_001100427.2",
"protein_id": "NP_001093897.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 607,
"cds_start": 125,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "ENST00000408927.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100427.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000408927.8",
"protein_id": "ENSP00000386153.4",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 607,
"cds_start": 125,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "NM_001100427.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408927.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000339360.9",
"protein_id": "ENSP00000340454.5",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 608,
"cds_start": 128,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 176,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339360.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000453712.6",
"protein_id": "ENSP00000407157.2",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 607,
"cds_start": 128,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453712.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000380158.8",
"protein_id": "ENSP00000369503.4",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 559,
"cds_start": 128,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380158.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000408900.7",
"protein_id": "ENSP00000386223.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 558,
"cds_start": 125,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 173,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408900.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.-116G>A",
"hgvs_p": null,
"transcript": "XM_047416051.1",
"protein_id": "XP_047272007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416051.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Ser75Asn",
"transcript": "ENST00000945540.1",
"protein_id": "ENSP00000615599.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 640,
"cds_start": 224,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945540.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "NM_001100426.2",
"protein_id": "NP_001093896.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 608,
"cds_start": 128,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100426.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "NM_021159.5",
"protein_id": "NP_066982.3",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 607,
"cds_start": 128,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021159.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000884481.1",
"protein_id": "ENSP00000554540.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 606,
"cds_start": 125,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884481.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000884490.1",
"protein_id": "ENSP00000554549.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 566,
"cds_start": 128,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884490.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000884483.1",
"protein_id": "ENSP00000554542.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 565,
"cds_start": 128,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884483.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000884487.1",
"protein_id": "ENSP00000554546.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 565,
"cds_start": 125,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884487.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000884488.1",
"protein_id": "ENSP00000554547.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 565,
"cds_start": 125,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 303,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884488.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn",
"transcript": "ENST00000945541.1",
"protein_id": "ENSP00000615600.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 565,
"cds_start": 128,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945541.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000945548.1",
"protein_id": "ENSP00000615607.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 565,
"cds_start": 125,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945548.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000884497.1",
"protein_id": "ENSP00000554556.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 564,
"cds_start": 125,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884497.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000932078.1",
"protein_id": "ENSP00000602137.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 564,
"cds_start": 125,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932078.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000945542.1",
"protein_id": "ENSP00000615601.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 564,
"cds_start": 125,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945542.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000945544.1",
"protein_id": "ENSP00000615603.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 564,
"cds_start": 125,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 2394,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945544.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.125G>A",
"hgvs_p": "p.Ser42Asn",
"transcript": "ENST00000945546.1",
"protein_id": "ENSP00000615605.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 564,
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"hgvs_p": null,
"transcript": "XM_024454168.2",
"protein_id": "XP_024309936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": null,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454168.2"
}
],
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"dbsnp": "rs370477193",
"frequency_reference_population": 0.000101315236,
"hom_count_reference_population": 0,
"allele_count_reference_population": 163,
"gnomad_exomes_af": 0.000107779,
"gnomad_genomes_af": 0.0000394327,
"gnomad_exomes_ac": 157,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2762199640274048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.7598,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.338,
"phylop100way_prediction": "Pathogenic",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001100426.2",
"gene_symbol": "RAP1GDS1",
"hgnc_id": 9859,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Ser43Asn"
}
],
"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
}