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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: 9-124312521-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=124312521&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 124312521,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001145001.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "NM_014397.6",
"protein_id": "NP_055212.2",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320246.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014397.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000320246.10",
"protein_id": "ENSP00000319734.5",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014397.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320246.10"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Thr69Ala",
"transcript": "ENST00000373600.7",
"protein_id": "ENSP00000362702.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 347,
"cds_start": 205,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373600.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Thr53Ala",
"transcript": "ENST00000540326.5",
"protein_id": "ENSP00000441469.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 331,
"cds_start": 157,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540326.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000373603.5",
"protein_id": "ENSP00000362705.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373603.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000545174.5",
"protein_id": "ENSP00000442636.1",
"transcript_support_level": 1,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545174.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Thr69Ala",
"transcript": "NM_001145001.3",
"protein_id": "NP_001138473.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 347,
"cds_start": 205,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145001.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Thr69Ala",
"transcript": "NM_001166171.2",
"protein_id": "NP_001159643.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 347,
"cds_start": 205,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166171.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Thr69Ala",
"transcript": "ENST00000394199.6",
"protein_id": "ENSP00000377749.2",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 347,
"cds_start": 205,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394199.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000875873.1",
"protein_id": "ENSP00000545932.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 343,
"cds_start": 103,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875873.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Thr60Ala",
"transcript": "NM_001166169.2",
"protein_id": "NP_001159641.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 338,
"cds_start": 178,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166169.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.178A>G",
"hgvs_p": "p.Thr60Ala",
"transcript": "ENST00000539416.5",
"protein_id": "ENSP00000439651.1",
"transcript_support_level": 2,
"aa_start": 60,
"aa_end": null,
"aa_length": 338,
"cds_start": 178,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539416.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.157A>G",
"hgvs_p": "p.Thr53Ala",
"transcript": "NM_001166167.2",
"protein_id": "NP_001159639.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 331,
"cds_start": 157,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166167.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Thr49Ala",
"transcript": "ENST00000875865.1",
"protein_id": "ENSP00000545924.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 327,
"cds_start": 145,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875865.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Thr49Ala",
"transcript": "ENST00000972168.1",
"protein_id": "ENSP00000642227.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 327,
"cds_start": 145,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972168.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Thr49Ala",
"transcript": "ENST00000972169.1",
"protein_id": "ENSP00000642228.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 327,
"cds_start": 145,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972169.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "NM_001166168.2",
"protein_id": "NP_001159640.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166168.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "NM_001166170.2",
"protein_id": "NP_001159642.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166170.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000546191.5",
"protein_id": "ENSP00000441426.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546191.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000875861.1",
"protein_id": "ENSP00000545920.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875861.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000875864.1",
"protein_id": "ENSP00000545923.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875864.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK6",
"gene_hgnc_id": 7749,
"hgvs_c": "c.103A>G",
"hgvs_p": "p.Thr35Ala",
"transcript": "ENST00000875866.1",
"protein_id": "ENSP00000545925.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 313,
"cds_start": 103,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875866.1"
},
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"phenotype_combined": "not specified",
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}
],
"message": null
}