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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: 12-48771838-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48771838&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48771838,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015270.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_015270.5",
"protein_id": "NP_056085.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357869.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015270.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000357869.8",
"protein_id": "ENSP00000350536.4",
"transcript_support_level": 2,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015270.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357869.8"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000307885.4",
"protein_id": "ENSP00000311405.4",
"transcript_support_level": 1,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307885.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3004T>C",
"hgvs_p": "p.Cys1002Arg",
"transcript": "ENST00000960700.1",
"protein_id": "ENSP00000630759.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960700.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_001390831.2",
"protein_id": "NP_001377760.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390831.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_001412819.1",
"protein_id": "NP_001399748.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412819.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_001412820.1",
"protein_id": "NP_001399749.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412820.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_001412821.1",
"protein_id": "NP_001399750.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412821.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "NM_001412822.1",
"protein_id": "NP_001399751.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412822.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000873895.1",
"protein_id": "ENSP00000543954.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873895.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000911287.1",
"protein_id": "ENSP00000581346.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911287.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000960699.1",
"protein_id": "ENSP00000630758.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960699.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000960708.1",
"protein_id": "ENSP00000630767.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960708.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2923T>C",
"hgvs_p": "p.Cys975Arg",
"transcript": "ENST00000960709.1",
"protein_id": "ENSP00000630768.1",
"transcript_support_level": null,
"aa_start": 975,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2923,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960709.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2911T>C",
"hgvs_p": "p.Cys971Arg",
"transcript": "ENST00000960707.1",
"protein_id": "ENSP00000630766.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1164,
"cds_start": 2911,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960707.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2869T>C",
"hgvs_p": "p.Cys957Arg",
"transcript": "ENST00000960703.1",
"protein_id": "ENSP00000630762.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3453,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960703.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2848T>C",
"hgvs_p": "p.Cys950Arg",
"transcript": "ENST00000960698.1",
"protein_id": "ENSP00000630757.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960698.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2845T>C",
"hgvs_p": "p.Cys949Arg",
"transcript": "ENST00000960706.1",
"protein_id": "ENSP00000630765.1",
"transcript_support_level": null,
"aa_start": 949,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2845,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960706.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2806T>C",
"hgvs_p": "p.Cys936Arg",
"transcript": "ENST00000960704.1",
"protein_id": "ENSP00000630763.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1129,
"cds_start": 2806,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960704.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2764T>C",
"hgvs_p": "p.Cys922Arg",
"transcript": "NM_001390830.1",
"protein_id": "NP_001377759.1",
"transcript_support_level": null,
"aa_start": 922,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390830.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2764T>C",
"hgvs_p": "p.Cys922Arg",
"transcript": "ENST00000550422.5",
"protein_id": "ENSP00000446730.1",
"transcript_support_level": 2,
"aa_start": 922,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2764,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550422.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.2737T>C",
"hgvs_p": "p.Cys913Arg",
"transcript": "ENST00000960702.1",
"protein_id": "ENSP00000630761.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2737,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
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{
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],
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}
],
"message": null
}