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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: 2-230169132-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230169132&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230169132,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_080424.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2134C>T",
"hgvs_p": "p.Leu712Phe",
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 713,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2134C>T",
"hgvs_p": "p.Leu712Phe",
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": 712,
"aa_end": null,
"aa_length": 713,
"cds_start": 2134,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 6192,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2062C>T",
"hgvs_p": "p.Leu688Phe",
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 689,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Leu744Phe",
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 745,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2395,
"cdna_end": null,
"cdna_length": 6341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2212C>T",
"hgvs_p": "p.Leu738Phe",
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 739,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 2324,
"cdna_end": null,
"cdna_length": 6270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2152C>T",
"hgvs_p": "p.Leu718Phe",
"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 719,
"cds_start": 2152,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 6263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2080C>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "NM_001378445.1",
"protein_id": "NP_001365374.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 695,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2062C>T",
"hgvs_p": "p.Leu688Phe",
"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 689,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 6120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1939C>T",
"hgvs_p": "p.Leu647Phe",
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 648,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2104,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2230C>T",
"hgvs_p": "p.Leu744Phe",
"transcript": "XM_017003968.3",
"protein_id": "XP_016859457.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 745,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2080C>T",
"hgvs_p": "p.Leu694Phe",
"transcript": "XM_011511090.4",
"protein_id": "XP_011509392.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 695,
"cds_start": 2080,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.2011C>T",
"hgvs_p": "p.Leu671Phe",
"transcript": "XM_011511091.4",
"protein_id": "XP_011509393.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 672,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 6122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1921C>T",
"hgvs_p": "p.Leu641Phe",
"transcript": "XM_047444120.1",
"protein_id": "XP_047300076.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 642,
"cds_start": 1921,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 5979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Leu597Phe",
"transcript": "XM_024452850.2",
"protein_id": "XP_024308618.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 598,
"cds_start": 1789,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1954,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Leu591Phe",
"transcript": "XM_047444121.1",
"protein_id": "XP_047300077.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 592,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 5829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Leu535Phe",
"transcript": "XM_011511092.4",
"protein_id": "XP_011509394.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 536,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 6122,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.401C>T",
"hgvs_p": null,
"transcript": "ENST00000463022.1",
"protein_id": null,
"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": 405,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.886C>T",
"hgvs_p": null,
"transcript": "ENST00000477068.1",
"protein_id": null,
"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": 2725,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.385C>T",
"hgvs_p": null,
"transcript": "ENST00000480916.1",
"protein_id": null,
"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": 599,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"transcript": "ENST00000483067.1",
"protein_id": null,
"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": 553,
"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": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.2062C>T",
"hgvs_p": null,
"transcript": "ENST00000698099.1",
"protein_id": "ENSP00000513563.1",
"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": 3010,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "n.1771C>T",
"hgvs_p": null,
"transcript": "ENST00000698100.1",
"protein_id": "ENSP00000513564.1",
"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": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225963",
"gene_hgnc_id": null,
"hgvs_c": "n.1071-2967G>A",
"hgvs_p": null,
"transcript": "ENST00000454058.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
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{
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],
"verdict": "Likely_benign",
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],
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}