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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: 3-47017246-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47017246&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47017246,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014159.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7542C>T",
"hgvs_p": "p.His2514His",
"transcript": "NM_014159.7",
"protein_id": "NP_054878.5",
"transcript_support_level": null,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2564,
"cds_start": 7542,
"cds_end": null,
"cds_length": 7695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409792.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014159.7"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7542C>T",
"hgvs_p": "p.His2514His",
"transcript": "ENST00000409792.4",
"protein_id": "ENSP00000386759.3",
"transcript_support_level": 5,
"aa_start": 2514,
"aa_end": null,
"aa_length": 2564,
"cds_start": 7542,
"cds_end": null,
"cds_length": 7695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014159.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409792.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*3265C>T",
"hgvs_p": null,
"transcript": "ENST00000330022.11",
"protein_id": "ENSP00000332415.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000330022.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*3265C>T",
"hgvs_p": null,
"transcript": "ENST00000330022.11",
"protein_id": "ENSP00000332415.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000330022.11"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7464C>T",
"hgvs_p": "p.His2488His",
"transcript": "ENST00000952253.1",
"protein_id": "ENSP00000622312.1",
"transcript_support_level": null,
"aa_start": 2488,
"aa_end": null,
"aa_length": 2538,
"cds_start": 7464,
"cds_end": null,
"cds_length": 7617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952253.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7410C>T",
"hgvs_p": "p.His2470His",
"transcript": "NM_001349370.3",
"protein_id": "NP_001336299.1",
"transcript_support_level": null,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7410,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349370.3"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7410C>T",
"hgvs_p": "p.His2470His",
"transcript": "ENST00000638947.2",
"protein_id": "ENSP00000491413.2",
"transcript_support_level": 5,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7410,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638947.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7308C>T",
"hgvs_p": "p.His2436His",
"transcript": "ENST00000685005.1",
"protein_id": "ENSP00000509568.1",
"transcript_support_level": null,
"aa_start": 2436,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7308,
"cds_end": null,
"cds_length": 7461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685005.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.4257C>T",
"hgvs_p": "p.His1419His",
"transcript": "ENST00000686876.1",
"protein_id": "ENSP00000509591.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4257,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686876.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3894C>T",
"hgvs_p": "p.His1298His",
"transcript": "ENST00000690157.1",
"protein_id": "ENSP00000509438.1",
"transcript_support_level": null,
"aa_start": 1298,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3894,
"cds_end": null,
"cds_length": 4047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690157.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3336C>T",
"hgvs_p": "p.His1112His",
"transcript": "ENST00000691902.1",
"protein_id": "ENSP00000510234.1",
"transcript_support_level": null,
"aa_start": 1112,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3336,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691902.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3159C>T",
"hgvs_p": "p.His1053His",
"transcript": "ENST00000893753.1",
"protein_id": "ENSP00000563812.1",
"transcript_support_level": null,
"aa_start": 1053,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3159,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893753.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3027C>T",
"hgvs_p": "p.His1009His",
"transcript": "ENST00000952254.1",
"protein_id": "ENSP00000622313.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3027,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952254.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.2898C>T",
"hgvs_p": "p.His966His",
"transcript": "ENST00000952255.1",
"protein_id": "ENSP00000622314.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2898,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952255.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.2598C>T",
"hgvs_p": "p.His866His",
"transcript": "ENST00000691544.1",
"protein_id": "ENSP00000510710.1",
"transcript_support_level": null,
"aa_start": 866,
"aa_end": null,
"aa_length": 916,
"cds_start": 2598,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691544.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7410C>T",
"hgvs_p": "p.His2470His",
"transcript": "XM_047448045.1",
"protein_id": "XP_047304001.1",
"transcript_support_level": null,
"aa_start": 2470,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7410,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448045.1"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7275C>T",
"hgvs_p": "p.His2425His",
"transcript": "XM_024453487.2",
"protein_id": "XP_024309255.1",
"transcript_support_level": null,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2475,
"cds_start": 7275,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453487.2"
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7110C>T",
"hgvs_p": "p.His2370His",
"transcript": "XM_024453488.2",
"protein_id": "XP_024309256.1",
"transcript_support_level": null,
"aa_start": 2370,
"aa_end": null,
"aa_length": 2420,
"cds_start": 7110,
"cds_end": null,
"cds_length": 7263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453488.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*2867C>T",
"hgvs_p": null,
"transcript": "ENST00000431180.5",
"protein_id": "ENSP00000388349.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431180.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1492C>T",
"hgvs_p": null,
"transcript": "ENST00000445387.5",
"protein_id": "ENSP00000411901.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.4351C>T",
"hgvs_p": null,
"transcript": "ENST00000685237.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000685237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1748C>T",
"hgvs_p": null,
"transcript": "ENST00000685505.1",
"protein_id": "ENSP00000510732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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}