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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: 10-3138245-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3138245&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3138245,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001242307.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3010G>C",
"hgvs_p": "p.Val1004Leu",
"transcript": "NM_014889.4",
"protein_id": "NP_055704.2",
"transcript_support_level": null,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000224949.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014889.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3010G>C",
"hgvs_p": "p.Val1004Leu",
"transcript": "ENST00000224949.9",
"protein_id": "ENSP00000224949.4",
"transcript_support_level": 1,
"aa_start": 1004,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3010,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014889.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224949.9"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3013G>C",
"hgvs_p": "p.Val1005Leu",
"transcript": "ENST00000380989.6",
"protein_id": "ENSP00000370377.2",
"transcript_support_level": 1,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380989.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.2833G>C",
"hgvs_p": null,
"transcript": "ENST00000464395.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464395.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3013G>C",
"hgvs_p": "p.Val1005Leu",
"transcript": "NM_001242307.2",
"protein_id": "NP_001229236.1",
"transcript_support_level": null,
"aa_start": 1005,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3013,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242307.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2998G>C",
"hgvs_p": "p.Val1000Leu",
"transcript": "ENST00000851395.1",
"protein_id": "ENSP00000521454.1",
"transcript_support_level": null,
"aa_start": 1000,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2998,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851395.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2995G>C",
"hgvs_p": "p.Val999Leu",
"transcript": "ENST00000960314.1",
"protein_id": "ENSP00000630373.1",
"transcript_support_level": null,
"aa_start": 999,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2995,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960314.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2986G>C",
"hgvs_p": "p.Val996Leu",
"transcript": "NM_001347729.1",
"protein_id": "NP_001334658.1",
"transcript_support_level": null,
"aa_start": 996,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2986,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347729.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Val989Leu",
"transcript": "ENST00000960311.1",
"protein_id": "ENSP00000630370.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1022,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960311.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2962G>C",
"hgvs_p": "p.Val988Leu",
"transcript": "ENST00000678987.1",
"protein_id": "ENSP00000504462.1",
"transcript_support_level": null,
"aa_start": 988,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2962,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678987.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2887G>C",
"hgvs_p": "p.Val963Leu",
"transcript": "ENST00000678441.1",
"protein_id": "ENSP00000504785.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 996,
"cds_start": 2887,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678441.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2884G>C",
"hgvs_p": "p.Val962Leu",
"transcript": "ENST00000678370.1",
"protein_id": "ENSP00000504540.1",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 995,
"cds_start": 2884,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678370.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2878G>C",
"hgvs_p": "p.Val960Leu",
"transcript": "ENST00000960312.1",
"protein_id": "ENSP00000630371.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 993,
"cds_start": 2878,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960312.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2875G>C",
"hgvs_p": "p.Val959Leu",
"transcript": "ENST00000676953.1",
"protein_id": "ENSP00000504468.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 992,
"cds_start": 2875,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676953.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2812G>C",
"hgvs_p": "p.Val938Leu",
"transcript": "NM_001347725.2",
"protein_id": "NP_001334654.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 971,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347725.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2812G>C",
"hgvs_p": "p.Val938Leu",
"transcript": "ENST00000678436.1",
"protein_id": "ENSP00000503187.1",
"transcript_support_level": null,
"aa_start": 938,
"aa_end": null,
"aa_length": 971,
"cds_start": 2812,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678436.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2788G>C",
"hgvs_p": "p.Val930Leu",
"transcript": "NM_001347730.1",
"protein_id": "NP_001334659.1",
"transcript_support_level": null,
"aa_start": 930,
"aa_end": null,
"aa_length": 963,
"cds_start": 2788,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347730.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2716G>C",
"hgvs_p": "p.Val906Leu",
"transcript": "NM_001242309.1",
"protein_id": "NP_001229238.1",
"transcript_support_level": null,
"aa_start": 906,
"aa_end": null,
"aa_length": 939,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242309.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2716G>C",
"hgvs_p": "p.Val906Leu",
"transcript": "ENST00000451104.6",
"protein_id": "ENSP00000401201.2",
"transcript_support_level": 2,
"aa_start": 906,
"aa_end": null,
"aa_length": 939,
"cds_start": 2716,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451104.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2395G>C",
"hgvs_p": "p.Val799Leu",
"transcript": "NM_001347727.2",
"protein_id": "NP_001334656.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 832,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347727.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2395G>C",
"hgvs_p": "p.Val799Leu",
"transcript": "ENST00000380994.6",
"protein_id": "ENSP00000370382.2",
"transcript_support_level": 5,
"aa_start": 799,
"aa_end": null,
"aa_length": 832,
"cds_start": 2395,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380994.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2275G>C",
"hgvs_p": "p.Val759Leu",
"transcript": "ENST00000960313.1",
"protein_id": "ENSP00000630372.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 792,
"cds_start": 2275,
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}