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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: 3-124563062-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124563062&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124563062,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001024660.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2986,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682506.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388419.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2986,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001388419.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682506.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5149A>T",
"hgvs_p": "p.Met1717Leu",
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2986,
"cds_start": 5149,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024660.5"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5149A>T",
"hgvs_p": "p.Met1717Leu",
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2986,
"cds_start": 5149,
"cds_end": null,
"cds_length": 8961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360013.7"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5053A>T",
"hgvs_p": "p.Met1685Leu",
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": 1685,
"aa_end": null,
"aa_length": 2954,
"cds_start": 5053,
"cds_end": null,
"cds_length": 8865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354186.8"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5149A>T",
"hgvs_p": "p.Met1717Leu",
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": 1717,
"aa_end": null,
"aa_length": 2396,
"cds_start": 5149,
"cds_end": null,
"cds_length": 7191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322988.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.3226A>T",
"hgvs_p": "p.Met1076Leu",
"transcript": "NM_001388412.1",
"protein_id": "NP_001375341.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1756,
"cds_start": 3226,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388412.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.1330A>T",
"hgvs_p": "p.Met444Leu",
"transcript": "ENST00000684360.1",
"protein_id": "ENSP00000506947.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1330,
"cds_end": null,
"cds_length": 3279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684360.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_006713810.4",
"protein_id": "XP_006713873.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2988,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8967,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713810.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_011513279.3",
"protein_id": "XP_011511581.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2987,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513279.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_011513280.3",
"protein_id": "XP_011511582.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2987,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8964,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513280.3"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5128A>T",
"hgvs_p": "p.Met1710Leu",
"transcript": "XM_006713811.4",
"protein_id": "XP_006713874.1",
"transcript_support_level": null,
"aa_start": 1710,
"aa_end": null,
"aa_length": 2979,
"cds_start": 5128,
"cds_end": null,
"cds_length": 8940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713811.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5122A>T",
"hgvs_p": "p.Met1708Leu",
"transcript": "XM_011513281.4",
"protein_id": "XP_011511583.1",
"transcript_support_level": null,
"aa_start": 1708,
"aa_end": null,
"aa_length": 2977,
"cds_start": 5122,
"cds_end": null,
"cds_length": 8934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513281.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5116A>T",
"hgvs_p": "p.Met1706Leu",
"transcript": "XM_006713812.4",
"protein_id": "XP_006713875.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2975,
"cds_start": 5116,
"cds_end": null,
"cds_length": 8928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713812.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_017007429.2",
"protein_id": "XP_016862918.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2968,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007429.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_047449157.1",
"protein_id": "XP_047305113.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2967,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449157.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5089A>T",
"hgvs_p": "p.Met1697Leu",
"transcript": "XM_006713813.4",
"protein_id": "XP_006713876.1",
"transcript_support_level": null,
"aa_start": 1697,
"aa_end": null,
"aa_length": 2966,
"cds_start": 5089,
"cds_end": null,
"cds_length": 8901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713813.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_006713814.4",
"protein_id": "XP_006713877.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2956,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713814.4"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_017007430.2",
"protein_id": "XP_016862919.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2955,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007430.2"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5155A>T",
"hgvs_p": "p.Met1719Leu",
"transcript": "XM_047449158.1",
"protein_id": "XP_047305114.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2955,
"cds_start": 5155,
"cds_end": null,
"cds_length": 8868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449158.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5116A>T",
"hgvs_p": "p.Met1706Leu",
"transcript": "XM_047449159.1",
"protein_id": "XP_047305115.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2942,
"cds_start": 5116,
"cds_end": null,
"cds_length": 8829,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449159.1"
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.5116A>T",
"hgvs_p": "p.Met1706Leu",
"transcript": "XM_047449160.1",
"protein_id": "XP_047305116.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2493,
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}
],
"message": null
}