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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: 5-158713033-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=158713033&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 158713033,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001324101.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Val436Leu",
"transcript": "NM_024007.5",
"protein_id": "NP_076870.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 591,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313708.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024007.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Val436Leu",
"transcript": "ENST00000313708.11",
"protein_id": "ENSP00000322898.6",
"transcript_support_level": 1,
"aa_start": 436,
"aa_end": null,
"aa_length": 591,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024007.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313708.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1213G>T",
"hgvs_p": "p.Val405Leu",
"transcript": "ENST00000380654.8",
"protein_id": "ENSP00000370029.4",
"transcript_support_level": 1,
"aa_start": 405,
"aa_end": null,
"aa_length": 560,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380654.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1429G>T",
"hgvs_p": "p.Val477Leu",
"transcript": "ENST00000964682.1",
"protein_id": "ENSP00000634741.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 632,
"cds_start": 1429,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964682.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1405G>T",
"hgvs_p": "p.Val469Leu",
"transcript": "ENST00000873114.1",
"protein_id": "ENSP00000543173.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 624,
"cds_start": 1405,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873114.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1309G>T",
"hgvs_p": "p.Val437Leu",
"transcript": "NM_001324101.2",
"protein_id": "NP_001311030.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 604,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324101.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Val436Leu",
"transcript": "NM_001324103.2",
"protein_id": "NP_001311032.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 603,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324103.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Val428Leu",
"transcript": "NM_001324106.2",
"protein_id": "NP_001311035.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 595,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324106.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1309G>T",
"hgvs_p": "p.Val437Leu",
"transcript": "NM_001290360.3",
"protein_id": "NP_001277289.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 592,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290360.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Val429Leu",
"transcript": "NM_001324107.2",
"protein_id": "NP_001311036.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 584,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324107.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Val428Leu",
"transcript": "NM_001324108.2",
"protein_id": "NP_001311037.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 583,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324108.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1195G>T",
"hgvs_p": "p.Val399Leu",
"transcript": "NM_001364157.2",
"protein_id": "NP_001351086.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 566,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364157.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1213G>T",
"hgvs_p": "p.Val405Leu",
"transcript": "NM_182708.3",
"protein_id": "NP_874367.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 560,
"cds_start": 1213,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182708.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1192G>T",
"hgvs_p": "p.Val398Leu",
"transcript": "NM_001364156.2",
"protein_id": "NP_001351085.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 553,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364156.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1309G>T",
"hgvs_p": "p.Val437Leu",
"transcript": "NM_001324109.2",
"protein_id": "NP_001311038.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 544,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324109.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Val436Leu",
"transcript": "NM_001364155.2",
"protein_id": "NP_001351084.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 531,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364155.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1282G>T",
"hgvs_p": "p.Val428Leu",
"transcript": "ENST00000517373.1",
"protein_id": "ENSP00000428020.1",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 523,
"cds_start": 1282,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517373.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.910G>T",
"hgvs_p": "p.Val304Leu",
"transcript": "NM_001324111.2",
"protein_id": "NP_001311040.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 459,
"cds_start": 910,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324111.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Val303Leu",
"transcript": "NM_001364159.2",
"protein_id": "NP_001351088.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 458,
"cds_start": 907,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364159.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.883G>T",
"hgvs_p": "p.Val295Leu",
"transcript": "NM_001364158.2",
"protein_id": "NP_001351087.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 450,
"cds_start": 883,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364158.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Val429Leu",
"transcript": "XM_017009194.2",
"protein_id": "XP_016864683.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 596,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009194.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBF1",
"gene_hgnc_id": 3126,
"hgvs_c": "c.1192G>T",
"hgvs_p": "p.Val398Leu",
"transcript": "XM_017009197.2",
"protein_id": "XP_016864686.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 565,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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