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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: 19-12899523-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12899523&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12899523,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000159.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Ala433Ala",
"transcript": "NM_000159.4",
"protein_id": "NP_000150.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 438,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000222214.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000159.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Ala433Ala",
"transcript": "ENST00000222214.10",
"protein_id": "ENSP00000222214.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 438,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000159.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222214.10"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Ala433Ala",
"transcript": "ENST00000591470.5",
"protein_id": "ENSP00000466845.1",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 438,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591470.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYCE2",
"gene_hgnc_id": 27411,
"hgvs_c": "c.613-138C>T",
"hgvs_p": null,
"transcript": "NM_001105578.2",
"protein_id": "NP_001099048.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293695.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105578.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SYCE2",
"gene_hgnc_id": 27411,
"hgvs_c": "c.613-138C>T",
"hgvs_p": null,
"transcript": "ENST00000293695.8",
"protein_id": "ENSP00000293695.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105578.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293695.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Ala473Ala",
"transcript": "ENST00000940009.1",
"protein_id": "ENSP00000610068.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 478,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940009.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Ala449Ala",
"transcript": "ENST00000587072.2",
"protein_id": "ENSP00000468584.2",
"transcript_support_level": 5,
"aa_start": 449,
"aa_end": null,
"aa_length": 454,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587072.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Ala437Ala",
"transcript": "ENST00000909380.1",
"protein_id": "ENSP00000579439.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 442,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909380.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Ala433Ala",
"transcript": "ENST00000909379.1",
"protein_id": "ENSP00000579438.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 438,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909379.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Ala431Ala",
"transcript": "ENST00000909381.1",
"protein_id": "ENSP00000579440.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 436,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909381.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1293G>A",
"hgvs_p": "p.Ala431Ala",
"transcript": "ENST00000909385.1",
"protein_id": "ENSP00000579444.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 436,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909385.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Ala424Ala",
"transcript": "ENST00000714075.1",
"protein_id": "ENSP00000519366.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 429,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714075.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Ala421Ala",
"transcript": "ENST00000588905.6",
"protein_id": "ENSP00000465770.2",
"transcript_support_level": 5,
"aa_start": 421,
"aa_end": null,
"aa_length": 426,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588905.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Ala421Ala",
"transcript": "ENST00000909383.1",
"protein_id": "ENSP00000579442.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 426,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909383.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1263G>A",
"hgvs_p": "p.Ala421Ala",
"transcript": "ENST00000909387.1",
"protein_id": "ENSP00000579446.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 426,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909387.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Ala410Ala",
"transcript": "ENST00000954317.1",
"protein_id": "ENSP00000624376.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 415,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954317.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1200G>A",
"hgvs_p": "p.Ala400Ala",
"transcript": "ENST00000954316.1",
"protein_id": "ENSP00000624375.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 405,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954316.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000714072.1",
"protein_id": "ENSP00000519363.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 396,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714072.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1173G>A",
"hgvs_p": "p.Ala391Ala",
"transcript": "ENST00000909384.1",
"protein_id": "ENSP00000579443.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 396,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909384.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1155G>A",
"hgvs_p": "p.Ala385Ala",
"transcript": "ENST00000940008.1",
"protein_id": "ENSP00000610067.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 390,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940008.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1134G>A",
"hgvs_p": "p.Ala378Ala",
"transcript": "ENST00000909382.1",
"protein_id": "ENSP00000579441.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 383,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909382.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1128G>A",
"hgvs_p": "p.Ala376Ala",
"transcript": "ENST00000909386.1",
"protein_id": "ENSP00000579445.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 381,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000159.4",
"gene_symbol": "GCDH",
"hgnc_id": 4189,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Ala433Ala"
},
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "NM_001105578.2",
"gene_symbol": "SYCE2",
"hgnc_id": 27411,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.613-138C>T",
"hgvs_p": null
}
],
"clinvar_disease": " type 1,Glutaric aciduria,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4",
"phenotype_combined": "not specified|Glutaric aciduria, type 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}