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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: 12-48769027-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=48769027&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 48769027,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015270.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_015270.5",
"protein_id": "NP_056085.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": "ENST00000357869.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015270.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000357869.8",
"protein_id": "ENSP00000350536.4",
"transcript_support_level": 2,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3479,
"cdna_end": null,
"cdna_length": 6092,
"mane_select": "NM_015270.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357869.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000307885.4",
"protein_id": "ENSP00000311405.4",
"transcript_support_level": 1,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307885.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3372C>G",
"hgvs_p": "p.Ile1124Met",
"transcript": "ENST00000960700.1",
"protein_id": "ENSP00000630759.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3372,
"cds_end": null,
"cds_length": 3588,
"cdna_start": 3531,
"cdna_end": null,
"cdna_length": 6140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960700.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_001390831.2",
"protein_id": "NP_001377760.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 6708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390831.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_001412819.1",
"protein_id": "NP_001399748.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3408,
"cdna_end": null,
"cdna_length": 6021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412819.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_001412820.1",
"protein_id": "NP_001399749.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3349,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412820.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_001412821.1",
"protein_id": "NP_001399750.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412821.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "NM_001412822.1",
"protein_id": "NP_001399751.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3388,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412822.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000873895.1",
"protein_id": "ENSP00000543954.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3466,
"cdna_end": null,
"cdna_length": 6082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873895.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000911287.1",
"protein_id": "ENSP00000581346.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 5953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911287.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000960699.1",
"protein_id": "ENSP00000630758.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3519,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960699.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000960708.1",
"protein_id": "ENSP00000630767.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960708.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3291C>G",
"hgvs_p": "p.Ile1097Met",
"transcript": "ENST00000960709.1",
"protein_id": "ENSP00000630768.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1168,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 5955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960709.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3279C>G",
"hgvs_p": "p.Ile1093Met",
"transcript": "ENST00000960707.1",
"protein_id": "ENSP00000630766.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960707.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3237C>G",
"hgvs_p": "p.Ile1079Met",
"transcript": "ENST00000960703.1",
"protein_id": "ENSP00000630762.1",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3237,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3382,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960703.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3216C>G",
"hgvs_p": "p.Ile1072Met",
"transcript": "ENST00000960698.1",
"protein_id": "ENSP00000630757.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3216,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 5988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960698.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3213C>G",
"hgvs_p": "p.Ile1071Met",
"transcript": "ENST00000960706.1",
"protein_id": "ENSP00000630765.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3213,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960706.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3174C>G",
"hgvs_p": "p.Ile1058Met",
"transcript": "ENST00000960704.1",
"protein_id": "ENSP00000630763.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1129,
"cds_start": 3174,
"cds_end": null,
"cds_length": 3390,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 5928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960704.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3132C>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "NM_001390830.1",
"protein_id": "NP_001377759.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1115,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3320,
"cdna_end": null,
"cdna_length": 5933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001390830.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3132C>G",
"hgvs_p": "p.Ile1044Met",
"transcript": "ENST00000550422.5",
"protein_id": "ENSP00000446730.1",
"transcript_support_level": 2,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1115,
"cds_start": 3132,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3268,
"cdna_end": null,
"cdna_length": 5877,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550422.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY6",
"gene_hgnc_id": 237,
"hgvs_c": "c.3105C>G",
"hgvs_p": "p.Ile1035Met",
"transcript": "ENST00000960702.1",
"protein_id": "ENSP00000630761.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
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}
],
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}