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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: 3-186790031-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=186790031&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 186790031,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002916.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "NM_002916.5",
"protein_id": "NP_002907.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296273.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002916.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000296273.7",
"protein_id": "ENSP00000296273.2",
"transcript_support_level": 1,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296273.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "NM_181573.3",
"protein_id": "NP_853551.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181573.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000392481.6",
"protein_id": "ENSP00000376272.2",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392481.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000928091.1",
"protein_id": "ENSP00000598150.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928091.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000928096.1",
"protein_id": "ENSP00000598155.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928096.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000928097.1",
"protein_id": "ENSP00000598156.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928097.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1030G>A",
"hgvs_p": "p.Glu344Lys",
"transcript": "ENST00000928101.1",
"protein_id": "ENSP00000598160.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 363,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928101.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000928093.1",
"protein_id": "ENSP00000598152.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 361,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928093.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.949G>A",
"hgvs_p": "p.Glu317Lys",
"transcript": "ENST00000433496.5",
"protein_id": "ENSP00000399769.1",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 336,
"cds_start": 949,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433496.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Glu306Lys",
"transcript": "ENST00000928098.1",
"protein_id": "ENSP00000598157.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 325,
"cds_start": 916,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928098.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Glu304Lys",
"transcript": "ENST00000865406.1",
"protein_id": "ENSP00000535465.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 323,
"cds_start": 910,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865406.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Glu304Lys",
"transcript": "ENST00000928094.1",
"protein_id": "ENSP00000598153.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 323,
"cds_start": 910,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928094.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.904G>A",
"hgvs_p": "p.Glu302Lys",
"transcript": "ENST00000928095.1",
"protein_id": "ENSP00000598154.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 321,
"cds_start": 904,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928095.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000928090.1",
"protein_id": "ENSP00000598149.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 298,
"cds_start": 835,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928090.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Glu279Lys",
"transcript": "ENST00000928092.1",
"protein_id": "ENSP00000598151.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 298,
"cds_start": 835,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928092.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"transcript": "ENST00000928102.1",
"protein_id": "ENSP00000598161.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 256,
"cds_start": 709,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928102.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.439G>A",
"hgvs_p": "p.Glu147Lys",
"transcript": "ENST00000928099.1",
"protein_id": "ENSP00000598158.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 166,
"cds_start": 439,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928099.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.292G>A",
"hgvs_p": "p.Glu98Lys",
"transcript": "ENST00000928100.1",
"protein_id": "ENSP00000598159.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 117,
"cds_start": 292,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928100.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "c.*15G>A",
"hgvs_p": null,
"transcript": "ENST00000417876.1",
"protein_id": "ENSP00000401429.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417876.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RFC4",
"gene_hgnc_id": 9972,
"hgvs_c": "n.904G>A",
"hgvs_p": null,
"transcript": "ENST00000479307.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000479307.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EIF4A2",
"gene_hgnc_id": 3284,
"hgvs_c": "c.*762C>T",
"hgvs_p": null,
"transcript": "NM_001967.4",
"protein_id": "NP_001958.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": null,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323963.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001967.4"
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}