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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: 10-101828237-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101828237&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101828237,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014591.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Val171Leu",
"transcript": "NM_173191.3",
"protein_id": "NP_775283.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 270,
"cds_start": 511,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356640.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173191.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Val171Leu",
"transcript": "ENST00000356640.7",
"protein_id": "ENSP00000349055.2",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 270,
"cds_start": 511,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173191.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356640.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Val186Leu",
"transcript": "ENST00000461105.5",
"protein_id": "ENSP00000420040.1",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 285,
"cds_start": 556,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461105.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000358038.7",
"protein_id": "ENSP00000350733.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 252,
"cds_start": 457,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358038.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.382G>T",
"hgvs_p": "p.Val128Leu",
"transcript": "ENST00000353068.7",
"protein_id": "ENSP00000341624.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 227,
"cds_start": 382,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353068.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.376G>T",
"hgvs_p": "p.Val126Leu",
"transcript": "ENST00000348850.9",
"protein_id": "ENSP00000239118.6",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 225,
"cds_start": 376,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348850.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Val121Leu",
"transcript": "ENST00000343195.8",
"protein_id": "ENSP00000344169.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 220,
"cds_start": 361,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343195.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.232G>T",
"hgvs_p": "p.Val78Leu",
"transcript": "ENST00000434163.5",
"protein_id": "ENSP00000411679.1",
"transcript_support_level": 1,
"aa_start": 78,
"aa_end": null,
"aa_length": 177,
"cds_start": 232,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434163.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.339+152G>T",
"hgvs_p": null,
"transcript": "ENST00000239117.3",
"protein_id": "ENSP00000239117.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": null,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239117.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.556G>T",
"hgvs_p": "p.Val186Leu",
"transcript": "NM_014591.5",
"protein_id": "NP_055406.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 285,
"cds_start": 556,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014591.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Val178Leu",
"transcript": "ENST00000853594.1",
"protein_id": "ENSP00000523653.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 277,
"cds_start": 532,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853594.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Val171Leu",
"transcript": "ENST00000945932.1",
"protein_id": "ENSP00000615991.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 269,
"cds_start": 511,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945932.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.499G>T",
"hgvs_p": "p.Val167Leu",
"transcript": "ENST00000945924.1",
"protein_id": "ENSP00000615983.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 266,
"cds_start": 499,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945924.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.499G>T",
"hgvs_p": "p.Val167Leu",
"transcript": "ENST00000945939.1",
"protein_id": "ENSP00000615998.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 266,
"cds_start": 499,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945939.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.475G>T",
"hgvs_p": "p.Val159Leu",
"transcript": "ENST00000945938.1",
"protein_id": "ENSP00000615997.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 258,
"cds_start": 475,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945938.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.460G>T",
"hgvs_p": "p.Val154Leu",
"transcript": "ENST00000853595.1",
"protein_id": "ENSP00000523654.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 253,
"cds_start": 460,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853595.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "NM_173192.3",
"protein_id": "NP_775284.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 252,
"cds_start": 457,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173192.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Leu",
"transcript": "ENST00000945928.1",
"protein_id": "ENSP00000615987.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 251,
"cds_start": 457,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945928.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Val149Leu",
"transcript": "ENST00000945929.1",
"protein_id": "ENSP00000615988.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945929.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.445G>T",
"hgvs_p": "p.Val149Leu",
"transcript": "ENST00000945930.1",
"protein_id": "ENSP00000615989.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945930.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.433G>T",
"hgvs_p": "p.Val145Leu",
"transcript": "ENST00000945927.1",
"protein_id": "ENSP00000615986.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 244,
"cds_start": 433,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945927.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP2",
"gene_hgnc_id": 15522,
"hgvs_c": "c.415G>T",
"hgvs_p": "p.Val139Leu",
"transcript": "ENST00000945931.1",
"protein_id": "ENSP00000615990.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 238,
"cds_start": 415,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945931.1"
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{
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"verdict": "Uncertain_significance",
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{
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],
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}
],
"message": null
}