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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: 2-231067086-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231067086&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 231067086,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002807.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_002807.4",
"protein_id": "NP_002798.2",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 953,
"cds_start": 485,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": "ENST00000308696.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002807.4"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000308696.11",
"protein_id": "ENSP00000309474.6",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 953,
"cds_start": 485,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 3323,
"mane_select": "NM_002807.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308696.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "n.*168T>C",
"hgvs_p": null,
"transcript": "ENST00000431051.6",
"protein_id": "ENSP00000400483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431051.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "n.*168T>C",
"hgvs_p": null,
"transcript": "ENST00000431051.6",
"protein_id": "ENSP00000400483.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000431051.6"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000971494.1",
"protein_id": "ENSP00000641553.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 1002,
"cds_start": 485,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971494.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000932107.1",
"protein_id": "ENSP00000602166.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 962,
"cds_start": 485,
"cds_end": null,
"cds_length": 2889,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932107.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000677230.1",
"protein_id": "ENSP00000503068.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 953,
"cds_start": 485,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677230.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000932105.1",
"protein_id": "ENSP00000602164.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 952,
"cds_start": 485,
"cds_end": null,
"cds_length": 2859,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 3305,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932105.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000932106.1",
"protein_id": "ENSP00000602165.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 950,
"cds_start": 485,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932106.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000932108.1",
"protein_id": "ENSP00000602167.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 950,
"cds_start": 485,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 3263,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932108.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000932109.1",
"protein_id": "ENSP00000602168.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 938,
"cds_start": 485,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932109.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000677259.1",
"protein_id": "ENSP00000504229.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 924,
"cds_start": 485,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3174,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677259.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000677180.1",
"protein_id": "ENSP00000504399.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 923,
"cds_start": 485,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677180.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "NM_001191037.2",
"protein_id": "NP_001177966.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 922,
"cds_start": 485,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 644,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191037.2"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000373635.9",
"protein_id": "ENSP00000362738.4",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 922,
"cds_start": 485,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373635.9"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000619128.5",
"protein_id": "ENSP00000479986.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 914,
"cds_start": 485,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000619128.5"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000971495.1",
"protein_id": "ENSP00000641554.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 905,
"cds_start": 485,
"cds_end": null,
"cds_length": 2718,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971495.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000409643.6",
"protein_id": "ENSP00000386932.2",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 893,
"cds_start": 485,
"cds_end": null,
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"cdna_start": 662,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409643.6"
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000678679.1",
"protein_id": "ENSP00000503840.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 893,
"cds_start": 485,
"cds_end": null,
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"cdna_start": 662,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678679.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000676740.1",
"protein_id": "ENSP00000502965.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 892,
"cds_start": 485,
"cds_end": null,
"cds_length": 2679,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676740.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.485T>C",
"hgvs_p": "p.Val162Ala",
"transcript": "ENST00000971493.1",
"protein_id": "ENSP00000641552.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 874,
"cds_start": 485,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971493.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMD1",
"gene_hgnc_id": 9554,
"hgvs_c": "c.77T>C",
"hgvs_p": "p.Val26Ala",
"transcript": "ENST00000677158.1",
"protein_id": "ENSP00000504825.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 817,
"cds_start": 77,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 3805,
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"phenotype_combined": "not specified",
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}
],
"message": null
}