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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: 17-5362928-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5362928&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5362928,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004703.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "NM_004703.6",
"protein_id": "NP_004694.2",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 862,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537505.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004703.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000537505.6",
"protein_id": "ENSP00000445408.2",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 862,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004703.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537505.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000341923.10",
"protein_id": "ENSP00000339569.6",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 829,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341923.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "n.1616A>G",
"hgvs_p": null,
"transcript": "ENST00000575475.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000575475.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUP88",
"gene_hgnc_id": 8067,
"hgvs_c": "n.72-842T>C",
"hgvs_p": null,
"transcript": "ENST00000573169.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000573169.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1628A>G",
"hgvs_p": "p.Asn543Ser",
"transcript": "ENST00000876352.1",
"protein_id": "ENSP00000546411.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 878,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876352.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1577A>G",
"hgvs_p": "p.Asn526Ser",
"transcript": "ENST00000947556.1",
"protein_id": "ENSP00000617615.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 861,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947556.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000876345.1",
"protein_id": "ENSP00000546404.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 860,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876345.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1574A>G",
"hgvs_p": "p.Asn525Ser",
"transcript": "ENST00000947557.1",
"protein_id": "ENSP00000617616.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 860,
"cds_start": 1574,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947557.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Asn520Ser",
"transcript": "ENST00000876346.1",
"protein_id": "ENSP00000546405.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 855,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876346.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Asn520Ser",
"transcript": "ENST00000947561.1",
"protein_id": "ENSP00000617620.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 853,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947561.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "NM_001083585.3",
"protein_id": "NP_001077054.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 829,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083585.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1481A>G",
"hgvs_p": "p.Asn494Ser",
"transcript": "ENST00000947560.1",
"protein_id": "ENSP00000617619.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 829,
"cds_start": 1481,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947560.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000876349.1",
"protein_id": "ENSP00000546408.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 823,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876349.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000911616.1",
"protein_id": "ENSP00000581675.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 823,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911616.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asn487Ser",
"transcript": "ENST00000876343.1",
"protein_id": "ENSP00000546402.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 822,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876343.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1559A>G",
"hgvs_p": "p.Asn520Ser",
"transcript": "ENST00000947558.1",
"protein_id": "ENSP00000617617.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 822,
"cds_start": 1559,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947558.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Asn487Ser",
"transcript": "ENST00000947555.1",
"protein_id": "ENSP00000617614.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 820,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947555.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Asn484Ser",
"transcript": "NM_001291581.2",
"protein_id": "NP_001278510.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 819,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291581.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Asn484Ser",
"transcript": "ENST00000876344.1",
"protein_id": "ENSP00000546403.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 819,
"cds_start": 1451,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876344.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Asn483Ser",
"transcript": "ENST00000876351.1",
"protein_id": "ENSP00000546410.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 818,
"cds_start": 1448,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876351.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RABEP1",
"gene_hgnc_id": 17677,
"hgvs_c": "c.1580A>G",
"hgvs_p": "p.Asn527Ser",
"transcript": "ENST00000911619.1",
"protein_id": "ENSP00000581678.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 815,
"cds_start": 1580,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
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{
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}