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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: 19-12897357-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=12897357&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 12897357,
"ref": "A",
"alt": "G",
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "NM_000159.4",
"protein_id": "NP_000150.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 438,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1852,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000222214.10",
"protein_id": "ENSP00000222214.4",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 438,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1852,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000591470.5",
"protein_id": "ENSP00000466845.1",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 438,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591470.5"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000714069.1",
"protein_id": "ENSP00000519360.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 522,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714069.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000714068.1",
"protein_id": "ENSP00000519359.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 480,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1917,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714068.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1131A>G",
"hgvs_p": "p.Ala377Ala",
"transcript": "ENST00000940009.1",
"protein_id": "ENSP00000610068.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 478,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 1918,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1059A>G",
"hgvs_p": "p.Ala353Ala",
"transcript": "ENST00000587072.2",
"protein_id": "ENSP00000468584.2",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 454,
"cds_start": 1059,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1883,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000591050.2",
"protein_id": "ENSP00000467735.2",
"transcript_support_level": 3,
"aa_start": 337,
"aa_end": null,
"aa_length": 446,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591050.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1023A>G",
"hgvs_p": "p.Ala341Ala",
"transcript": "ENST00000909380.1",
"protein_id": "ENSP00000579439.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 442,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 3022,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000714067.1",
"protein_id": "ENSP00000519358.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 441,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714067.1"
},
{
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000714070.1",
"protein_id": "ENSP00000519361.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 439,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714070.1"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000909379.1",
"protein_id": "ENSP00000579438.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 438,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1107,
"cdna_end": null,
"cdna_length": 3248,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1005A>G",
"hgvs_p": "p.Ala335Ala",
"transcript": "ENST00000909381.1",
"protein_id": "ENSP00000579440.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 436,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 1795,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1005A>G",
"hgvs_p": "p.Ala335Ala",
"transcript": "ENST00000909385.1",
"protein_id": "ENSP00000579444.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 436,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1840,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000590472.6",
"protein_id": "ENSP00000468625.3",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 433,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1302,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590472.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.984A>G",
"hgvs_p": "p.Ala328Ala",
"transcript": "ENST00000714075.1",
"protein_id": "ENSP00000519366.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 429,
"cds_start": 984,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 1771,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "NM_013976.5",
"protein_id": "NP_039663.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 428,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013976.5"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.1011A>G",
"hgvs_p": "p.Ala337Ala",
"transcript": "ENST00000714073.1",
"protein_id": "ENSP00000519364.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 428,
"cds_start": 1011,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714073.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Ala325Ala",
"transcript": "ENST00000588905.6",
"protein_id": "ENSP00000465770.2",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 426,
"cds_start": 975,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 1786,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Ala325Ala",
"transcript": "ENST00000909383.1",
"protein_id": "ENSP00000579442.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 426,
"cds_start": 975,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1830,
"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": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.975A>G",
"hgvs_p": "p.Ala325Ala",
"transcript": "ENST00000909387.1",
"protein_id": "ENSP00000579446.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 426,
"cds_start": 975,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1534,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCDH",
"gene_hgnc_id": 4189,
"hgvs_c": "c.942A>G",
"hgvs_p": "p.Ala314Ala",
"transcript": "ENST00000954317.1",
"protein_id": "ENSP00000624376.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 415,
"cds_start": 942,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1019,
"cdna_end": null,
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{
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"BP7",
"BS1",
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "not specified|Glutaric aciduria, type 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}