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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: 5-19483339-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=19483339&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 19483339,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004934.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "NM_004934.5",
"protein_id": "NP_004925.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": "ENST00000382275.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004934.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "ENST00000382275.6",
"protein_id": "ENSP00000371710.1",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2334,
"cdna_end": null,
"cdna_length": 4793,
"mane_select": "NM_004934.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382275.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "ENST00000274170.8",
"protein_id": "ENSP00000274170.3",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000274170.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.*10C>A",
"hgvs_p": null,
"transcript": "ENST00000506372.5",
"protein_id": "ENSP00000424931.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 575,
"cds_start": null,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506372.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "NM_001291956.3",
"protein_id": "NP_001278885.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291956.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "NM_001349556.2",
"protein_id": "NP_001336485.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349556.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "NM_001349558.2",
"protein_id": "NP_001336487.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2823,
"cdna_end": null,
"cdna_length": 5282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349558.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "NM_001349559.2",
"protein_id": "NP_001336488.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2330,
"cdna_end": null,
"cdna_length": 4789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349559.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "ENST00000507958.5",
"protein_id": "ENSP00000425093.1",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2835,
"cdna_end": null,
"cdna_length": 3542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507958.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "ENST00000871941.1",
"protein_id": "ENSP00000542000.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871941.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "ENST00000959453.1",
"protein_id": "ENSP00000629512.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959453.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1724C>A",
"hgvs_p": "p.Ala575Asp",
"transcript": "ENST00000959452.1",
"protein_id": "ENSP00000629511.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 750,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2211,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959452.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1175C>A",
"hgvs_p": "p.Ala392Asp",
"transcript": "NM_001349562.2",
"protein_id": "NP_001336491.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 567,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2503,
"cdna_end": null,
"cdna_length": 4962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349562.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1175C>A",
"hgvs_p": "p.Ala392Asp",
"transcript": "NM_001349563.2",
"protein_id": "NP_001336492.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 567,
"cds_start": 1175,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2423,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349563.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_005248228.5",
"protein_id": "XP_005248285.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2414,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248228.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_006714435.5",
"protein_id": "XP_006714498.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714435.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008924.3",
"protein_id": "XP_016864413.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2533,
"cdna_end": null,
"cdna_length": 4992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008924.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008926.3",
"protein_id": "XP_016864415.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2564,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008926.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008927.3",
"protein_id": "XP_016864416.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 4951,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008927.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008928.3",
"protein_id": "XP_016864417.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2750,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008928.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008929.3",
"protein_id": "XP_016864418.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008929.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDH18",
"gene_hgnc_id": 1757,
"hgvs_c": "c.1844C>A",
"hgvs_p": "p.Ala615Asp",
"transcript": "XM_017008930.3",
"protein_id": "XP_016864419.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 790,
"cds_start": 1844,
"cds_end": null,
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}
],
"message": null
}