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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: 2-73729997-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73729997&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73729997,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330386.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "NM_016058.5",
"protein_id": "NP_057142.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 664,
"mane_select": "ENST00000272424.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016058.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "ENST00000272424.11",
"protein_id": "ENSP00000272424.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 664,
"mane_select": "NM_016058.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272424.11"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "NM_001330386.2",
"protein_id": "NP_001317315.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 781,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330386.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "NM_001330387.2",
"protein_id": "NP_001317316.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330387.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000318190.7",
"protein_id": "ENSP00000325398.7",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 819,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318190.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000409716.6",
"protein_id": "ENSP00000386936.2",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409716.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000904806.1",
"protein_id": "ENSP00000574865.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1380,
"cdna_end": null,
"cdna_length": 1500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904806.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000904807.1",
"protein_id": "ENSP00000574866.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904807.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000904810.1",
"protein_id": "ENSP00000574869.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904810.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000939338.1",
"protein_id": "ENSP00000609397.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 814,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939338.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000939345.1",
"protein_id": "ENSP00000609404.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 787,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939345.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000939352.1",
"protein_id": "ENSP00000609411.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939352.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000939354.1",
"protein_id": "ENSP00000609413.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939354.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.591T>G",
"hgvs_p": "p.Ile197Met",
"transcript": "ENST00000939361.1",
"protein_id": "ENSP00000609420.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 214,
"cds_start": 591,
"cds_end": null,
"cds_length": 645,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 1401,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939361.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.540T>G",
"hgvs_p": "p.Ile180Met",
"transcript": "ENST00000939363.1",
"protein_id": "ENSP00000609422.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 197,
"cds_start": 540,
"cds_end": null,
"cds_length": 594,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939363.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.492T>G",
"hgvs_p": "p.Ile164Met",
"transcript": "ENST00000939344.1",
"protein_id": "ENSP00000609403.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 181,
"cds_start": 492,
"cds_end": null,
"cds_length": 546,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 689,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939344.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.492T>G",
"hgvs_p": "p.Ile164Met",
"transcript": "ENST00000939350.1",
"protein_id": "ENSP00000609409.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 181,
"cds_start": 492,
"cds_end": null,
"cds_length": 546,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939350.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "NM_001330388.2",
"protein_id": "NP_001317317.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 806,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330388.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "NM_001330389.2",
"protein_id": "NP_001317318.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 537,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330389.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "ENST00000904805.1",
"protein_id": "ENSP00000574864.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904805.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "ENST00000904808.1",
"protein_id": "ENSP00000574867.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 1370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904808.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPRKB",
"gene_hgnc_id": 24259,
"hgvs_c": "c.474T>G",
"hgvs_p": "p.Ile158Met",
"transcript": "ENST00000904809.1",
"protein_id": "ENSP00000574868.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 175,
"cds_start": 474,
"cds_end": null,
"cds_length": 528,
"cdna_start": 617,
"cdna_end": null,
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}
],
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}