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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: 3-47017671-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47017671&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47017671,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_014159.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7500C>G",
"hgvs_p": "p.Thr2500Thr",
"transcript": "NM_014159.7",
"protein_id": "NP_054878.5",
"transcript_support_level": null,
"aa_start": 2500,
"aa_end": null,
"aa_length": 2564,
"cds_start": 7500,
"cds_end": null,
"cds_length": 7695,
"cdna_start": 7689,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "ENST00000409792.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7500C>G",
"hgvs_p": "p.Thr2500Thr",
"transcript": "ENST00000409792.4",
"protein_id": "ENSP00000386759.3",
"transcript_support_level": 5,
"aa_start": 2500,
"aa_end": null,
"aa_length": 2564,
"cds_start": 7500,
"cds_end": null,
"cds_length": 7695,
"cdna_start": 7689,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": "NM_014159.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*3223C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*3223C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7368C>G",
"hgvs_p": "p.Thr2456Thr",
"transcript": "NM_001349370.3",
"protein_id": "NP_001336299.1",
"transcript_support_level": null,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7563,
"cdna_start": 7673,
"cdna_end": null,
"cdna_length": 8525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7368C>G",
"hgvs_p": "p.Thr2456Thr",
"transcript": "ENST00000638947.2",
"protein_id": "ENSP00000491413.2",
"transcript_support_level": 5,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7563,
"cdna_start": 7442,
"cdna_end": null,
"cdna_length": 8302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7266C>G",
"hgvs_p": "p.Thr2422Thr",
"transcript": "ENST00000685005.1",
"protein_id": "ENSP00000509568.1",
"transcript_support_level": null,
"aa_start": 2422,
"aa_end": null,
"aa_length": 2486,
"cds_start": 7266,
"cds_end": null,
"cds_length": 7461,
"cdna_start": 7266,
"cdna_end": null,
"cdna_length": 8109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.4215C>G",
"hgvs_p": "p.Thr1405Thr",
"transcript": "ENST00000686876.1",
"protein_id": "ENSP00000509591.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1469,
"cds_start": 4215,
"cds_end": null,
"cds_length": 4410,
"cdna_start": 4216,
"cdna_end": null,
"cdna_length": 5076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3852C>G",
"hgvs_p": "p.Thr1284Thr",
"transcript": "ENST00000690157.1",
"protein_id": "ENSP00000509438.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1348,
"cds_start": 3852,
"cds_end": null,
"cds_length": 4047,
"cdna_start": 3853,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.3294C>G",
"hgvs_p": "p.Thr1098Thr",
"transcript": "ENST00000691902.1",
"protein_id": "ENSP00000510234.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3294,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.2556C>G",
"hgvs_p": "p.Thr852Thr",
"transcript": "ENST00000691544.1",
"protein_id": "ENSP00000510710.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 916,
"cds_start": 2556,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2556,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7368C>G",
"hgvs_p": "p.Thr2456Thr",
"transcript": "XM_047448045.1",
"protein_id": "XP_047304001.1",
"transcript_support_level": null,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7563,
"cdna_start": 7470,
"cdna_end": null,
"cdna_length": 8322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7233C>G",
"hgvs_p": "p.Thr2411Thr",
"transcript": "XM_024453487.2",
"protein_id": "XP_024309255.1",
"transcript_support_level": null,
"aa_start": 2411,
"aa_end": null,
"aa_length": 2475,
"cds_start": 7233,
"cds_end": null,
"cds_length": 7428,
"cdna_start": 7335,
"cdna_end": null,
"cdna_length": 8187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "c.7068C>G",
"hgvs_p": "p.Thr2356Thr",
"transcript": "XM_024453488.2",
"protein_id": "XP_024309256.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2420,
"cds_start": 7068,
"cds_end": null,
"cds_length": 7263,
"cdna_start": 7129,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*2825C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1450C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.4309C>G",
"hgvs_p": null,
"transcript": "ENST00000685237.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1706C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1606C>G",
"hgvs_p": null,
"transcript": "ENST00000686773.1",
"protein_id": "ENSP00000510025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.1722C>G",
"hgvs_p": null,
"transcript": "ENST00000686792.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.1719C>G",
"hgvs_p": null,
"transcript": "ENST00000687657.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*1276C>G",
"hgvs_p": null,
"transcript": "ENST00000688290.1",
"protein_id": "ENSP00000509825.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SETD2",
"gene_hgnc_id": 18420,
"hgvs_c": "n.*355C>G",
"hgvs_p": null,
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}