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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: 10-3138118-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=3138118&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 3138118,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_014889.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3027C>T",
"hgvs_p": "p.Leu1009Leu",
"transcript": "NM_014889.4",
"protein_id": "NP_055704.2",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3027,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "ENST00000224949.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3027C>T",
"hgvs_p": "p.Leu1009Leu",
"transcript": "ENST00000224949.9",
"protein_id": "ENSP00000224949.4",
"transcript_support_level": 1,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3027,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 3037,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": "NM_014889.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3030C>T",
"hgvs_p": "p.Leu1010Leu",
"transcript": "ENST00000380989.6",
"protein_id": "ENSP00000370377.2",
"transcript_support_level": 1,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3099,
"cdna_end": null,
"cdna_length": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.2850C>T",
"hgvs_p": null,
"transcript": "ENST00000464395.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3030C>T",
"hgvs_p": "p.Leu1010Leu",
"transcript": "NM_001242307.2",
"protein_id": "NP_001229236.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1038,
"cds_start": 3030,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 3040,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.3003C>T",
"hgvs_p": "p.Leu1001Leu",
"transcript": "NM_001347729.1",
"protein_id": "NP_001334658.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1029,
"cds_start": 3003,
"cds_end": null,
"cds_length": 3090,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2979C>T",
"hgvs_p": "p.Leu993Leu",
"transcript": "ENST00000678987.1",
"protein_id": "ENSP00000504462.1",
"transcript_support_level": null,
"aa_start": 993,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2979,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 2996,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2904C>T",
"hgvs_p": "p.Leu968Leu",
"transcript": "ENST00000678441.1",
"protein_id": "ENSP00000504785.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 996,
"cds_start": 2904,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2922,
"cdna_end": null,
"cdna_length": 3294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2901C>T",
"hgvs_p": "p.Leu967Leu",
"transcript": "ENST00000678370.1",
"protein_id": "ENSP00000504540.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 995,
"cds_start": 2901,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2935,
"cdna_end": null,
"cdna_length": 3307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2892C>T",
"hgvs_p": "p.Leu964Leu",
"transcript": "ENST00000676953.1",
"protein_id": "ENSP00000504468.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 992,
"cds_start": 2892,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2899,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2829C>T",
"hgvs_p": "p.Leu943Leu",
"transcript": "NM_001347725.2",
"protein_id": "NP_001334654.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 971,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2839,
"cdna_end": null,
"cdna_length": 3229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2829C>T",
"hgvs_p": "p.Leu943Leu",
"transcript": "ENST00000678436.1",
"protein_id": "ENSP00000503187.1",
"transcript_support_level": null,
"aa_start": 943,
"aa_end": null,
"aa_length": 971,
"cds_start": 2829,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2864,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2805C>T",
"hgvs_p": "p.Leu935Leu",
"transcript": "NM_001347730.1",
"protein_id": "NP_001334659.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 963,
"cds_start": 2805,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2733C>T",
"hgvs_p": "p.Leu911Leu",
"transcript": "NM_001242309.1",
"protein_id": "NP_001229238.1",
"transcript_support_level": null,
"aa_start": 911,
"aa_end": null,
"aa_length": 939,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2733C>T",
"hgvs_p": "p.Leu911Leu",
"transcript": "ENST00000451104.6",
"protein_id": "ENSP00000401201.2",
"transcript_support_level": 2,
"aa_start": 911,
"aa_end": null,
"aa_length": 939,
"cds_start": 2733,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2412C>T",
"hgvs_p": "p.Leu804Leu",
"transcript": "NM_001347727.2",
"protein_id": "NP_001334656.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 832,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2412C>T",
"hgvs_p": "p.Leu804Leu",
"transcript": "ENST00000380994.6",
"protein_id": "ENSP00000370382.2",
"transcript_support_level": 5,
"aa_start": 804,
"aa_end": null,
"aa_length": 832,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 3274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.2214C>T",
"hgvs_p": "p.Leu738Leu",
"transcript": "NM_001347726.2",
"protein_id": "NP_001334655.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 766,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2795,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1722C>T",
"hgvs_p": "p.Leu574Leu",
"transcript": "NM_001347728.2",
"protein_id": "NP_001334657.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 602,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 3032,
"cdna_end": null,
"cdna_length": 3422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Leu457Leu",
"transcript": "ENST00000678811.1",
"protein_id": "ENSP00000504078.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 485,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.443C>T",
"hgvs_p": null,
"transcript": "ENST00000490510.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITRM1",
"gene_hgnc_id": 17663,
"hgvs_c": "n.3014C>T",
"hgvs_p": null,
"transcript": "ENST00000676519.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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},
{
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],
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}
],
"gene_symbol": "PITRM1",
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"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.756,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_014889.4",
"gene_symbol": "PITRM1",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Leu1009Leu"
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{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000441377.2",
"gene_symbol": "ENSG00000278419",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.120+2280G>A",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}