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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: 3-124671752-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124671752&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124671752,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001024660.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6796C>T",
"hgvs_p": "p.Pro2266Ser",
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": 2266,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6796,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 7168,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "ENST00000682506.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388419.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6796C>T",
"hgvs_p": "p.Pro2266Ser",
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": 2266,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6796,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 7168,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "NM_001388419.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682506.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Pro568Ser",
"transcript": "ENST00000291478.9",
"protein_id": "ENSP00000291478.4",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 1289,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 10888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291478.9"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6793C>T",
"hgvs_p": "p.Pro2265Ser",
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6793,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6924,
"cdna_end": null,
"cdna_length": 15947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024660.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6793C>T",
"hgvs_p": "p.Pro2265Ser",
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": 2265,
"aa_end": null,
"aa_length": 2986,
"cds_start": 6793,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 6920,
"cdna_end": null,
"cdna_length": 10806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360013.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6697C>T",
"hgvs_p": "p.Pro2233Ser",
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": 2233,
"aa_end": null,
"aa_length": 2954,
"cds_start": 6697,
"cds_end": null,
"cds_length": 8865,
"cdna_start": 6699,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354186.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6790C>T",
"hgvs_p": "p.Pro2264Ser",
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": 2264,
"aa_end": null,
"aa_length": 2396,
"cds_start": 6790,
"cds_end": null,
"cds_length": 7191,
"cdna_start": 6921,
"cdna_end": null,
"cdna_length": 8131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322988.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.4870C>T",
"hgvs_p": "p.Pro1624Ser",
"transcript": "NM_001388412.1",
"protein_id": "NP_001375341.1",
"transcript_support_level": null,
"aa_start": 1624,
"aa_end": null,
"aa_length": 1756,
"cds_start": 4870,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 5046,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388412.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Pro568Ser",
"transcript": "NM_007064.5",
"protein_id": "NP_008995.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1289,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 10889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007064.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Pro568Ser",
"transcript": "NM_001322993.2",
"protein_id": "NP_001309922.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1288,
"cds_start": 1702,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 10886,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322993.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2878C>T",
"hgvs_p": "p.Pro960Ser",
"transcript": "ENST00000684360.1",
"protein_id": "ENSP00000506947.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1092,
"cds_start": 2878,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 2878,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684360.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Pro577Ser",
"transcript": "NM_001322994.2",
"protein_id": "NP_001309923.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 709,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 3103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322994.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1729C>T",
"hgvs_p": "p.Pro577Ser",
"transcript": "ENST00000682363.1",
"protein_id": "ENSP00000507954.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 709,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 1874,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682363.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Pro568Ser",
"transcript": "NM_001322995.2",
"protein_id": "NP_001309924.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 701,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322995.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1702C>T",
"hgvs_p": "p.Pro568Ser",
"transcript": "NM_001322996.2",
"protein_id": "NP_001309925.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 700,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322996.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Pro567Ser",
"transcript": "NM_001322997.2",
"protein_id": "NP_001309926.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 699,
"cds_start": 1699,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 3073,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322997.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1606C>T",
"hgvs_p": "p.Pro536Ser",
"transcript": "NM_001322998.2",
"protein_id": "NP_001309927.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 669,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322998.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Pro535Ser",
"transcript": "NM_001322999.2",
"protein_id": "NP_001309928.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 668,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322999.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1606C>T",
"hgvs_p": "p.Pro536Ser",
"transcript": "NM_001323000.2",
"protein_id": "NP_001309929.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 668,
"cds_start": 1606,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323000.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1603C>T",
"hgvs_p": "p.Pro535Ser",
"transcript": "NM_001323001.2",
"protein_id": "NP_001309930.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 667,
"cds_start": 1603,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323001.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6799C>T",
"hgvs_p": "p.Pro2267Ser",
"transcript": "XM_006713810.4",
"protein_id": "XP_006713873.1",
"transcript_support_level": null,
"aa_start": 2267,
"aa_end": null,
"aa_length": 2988,
"cds_start": 6799,
"cds_end": null,
"cds_length": 8967,
"cdna_start": 7171,
"cdna_end": null,
"cdna_length": 16194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713810.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.6799C>T",
"hgvs_p": "p.Pro2267Ser",
"transcript": "XM_011513279.3",
"protein_id": "XP_011511581.1",
"transcript_support_level": null,
"aa_start": 2267,
"aa_end": null,
"aa_length": 2987,
"cds_start": 6799,
"cds_end": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000682290.1"
}
],
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"dbsnp": "rs146809556",
"frequency_reference_population": 0.00012886534,
"hom_count_reference_population": 0,
"allele_count_reference_population": 208,
"gnomad_exomes_af": 0.000138188,
"gnomad_genomes_af": 0.0000393918,
"gnomad_exomes_ac": 202,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2667333781719208,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.1812,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.607,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001024660.5",
"gene_symbol": "KALRN",
"hgnc_id": 4814,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6793C>T",
"hgvs_p": "p.Pro2265Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}