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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: 19-49710809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49710809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49710809,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000598293.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001199753.2",
"protein_id": "NP_001186682.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "ENST00000598293.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "ENST00000598293.6",
"protein_id": "ENSP00000473028.1",
"transcript_support_level": 2,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "NM_001199753.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "ENST00000323446.9",
"protein_id": "ENSP00000319343.4",
"transcript_support_level": 1,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2063,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "ENST00000405931.6",
"protein_id": "ENSP00000384465.2",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 792,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.684G>A",
"hgvs_p": "p.Thr228Thr",
"transcript": "ENST00000595031.1",
"protein_id": "ENSP00000472579.1",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 336,
"cds_start": 684,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "NM_001378482.1",
"protein_id": "NP_001365411.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001199752.3",
"protein_id": "NP_001186681.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001378483.1",
"protein_id": "NP_001365412.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_001378484.1",
"protein_id": "NP_001365413.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 1955,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "NM_152359.3",
"protein_id": "NP_689572.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "ENST00000392518.8",
"protein_id": "ENSP00000376303.4",
"transcript_support_level": 2,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "NM_001136052.3",
"protein_id": "NP_001129524.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 792,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "NM_001378485.1",
"protein_id": "NP_001365414.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 792,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "XM_047438151.1",
"protein_id": "XP_047294107.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "XM_047438152.1",
"protein_id": "XP_047294108.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2123,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "XM_047438153.1",
"protein_id": "XP_047294109.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "XM_047438154.1",
"protein_id": "XP_047294110.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 1930,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1884G>A",
"hgvs_p": "p.Thr628Thr",
"transcript": "XM_047438155.1",
"protein_id": "XP_047294111.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 825,
"cds_start": 1884,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "XM_047438156.1",
"protein_id": "XP_047294112.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2106,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1818G>A",
"hgvs_p": "p.Thr606Thr",
"transcript": "XM_047438157.1",
"protein_id": "XP_047294113.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 803,
"cds_start": 1818,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "XM_047438158.1",
"protein_id": "XP_047294114.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 792,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 1831,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1785G>A",
"hgvs_p": "p.Thr595Thr",
"transcript": "XM_047438159.1",
"protein_id": "XP_047294115.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 792,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2025,
"cdna_end": null,
"cdna_length": 2745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
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{
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"phenotype_combined": "Hereditary spastic paraplegia 73",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}