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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: 14-103475042-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103475042&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 103475042,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001128918.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_001128918.3",
"protein_id": "NP_001122390.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 753,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000429436.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128918.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000429436.7",
"protein_id": "ENSP00000411397.2",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 753,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128918.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429436.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.Thr422Thr",
"transcript": "ENST00000556744.2",
"protein_id": "ENSP00000451623.2",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 789,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556744.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1383C>A",
"hgvs_p": "p.Thr461Thr",
"transcript": "ENST00000416682.6",
"protein_id": "ENSP00000408092.2",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 752,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416682.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000553942.5",
"protein_id": "ENSP00000450772.1",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 744,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553942.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000303622.13",
"protein_id": "ENSP00000303698.9",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 729,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303622.13"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.Thr422Thr",
"transcript": "ENST00000216288.11",
"protein_id": "ENSP00000216288.7",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 713,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216288.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1077C>A",
"hgvs_p": "p.Thr359Thr",
"transcript": "ENST00000440884.7",
"protein_id": "ENSP00000402104.3",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 659,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440884.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000873450.1",
"protein_id": "ENSP00000543509.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 805,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873450.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000678179.1",
"protein_id": "ENSP00000503689.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 796,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678179.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000969206.1",
"protein_id": "ENSP00000639265.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 795,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969206.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000676897.1",
"protein_id": "ENSP00000503095.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 790,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676897.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000679330.1",
"protein_id": "ENSP00000503975.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 781,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679330.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.Thr422Thr",
"transcript": "ENST00000969207.1",
"protein_id": "ENSP00000639266.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 780,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969207.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1383C>A",
"hgvs_p": "p.Thr461Thr",
"transcript": "ENST00000335102.9",
"protein_id": "ENSP00000335347.5",
"transcript_support_level": 5,
"aa_start": 461,
"aa_end": null,
"aa_length": 776,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335102.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.Thr469Thr",
"transcript": "ENST00000969211.1",
"protein_id": "ENSP00000639270.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 775,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969211.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.Thr422Thr",
"transcript": "ENST00000969210.1",
"protein_id": "ENSP00000639269.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 774,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969210.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1266C>A",
"hgvs_p": "p.Thr422Thr",
"transcript": "ENST00000969215.1",
"protein_id": "ENSP00000639274.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 770,
"cds_start": 1266,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969215.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1407C>A",
"hgvs_p": "p.Thr469Thr",
"transcript": "ENST00000873455.1",
"protein_id": "ENSP00000543514.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 769,
"cds_start": 1407,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873455.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1383C>A",
"hgvs_p": "p.Thr461Thr",
"transcript": "ENST00000969205.1",
"protein_id": "ENSP00000639264.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 761,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969205.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_001128919.3",
"protein_id": "NP_001122391.2",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 744,
"cds_start": 1314,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128919.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "c.1308C>A",
"hgvs_p": "p.Thr436Thr",
"transcript": "ENST00000912916.1",
"protein_id": "ENSP00000582975.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 742,
"cds_start": 1308,
"cds_end": null,
"cds_length": 2229,
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"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": "pseudogene",
"feature": "ENST00000678091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"hgvs_c": "n.298-15910C>A",
"hgvs_p": null,
"transcript": "ENST00000678343.1",
"protein_id": "ENSP00000502973.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000678343.1"
}
],
"gene_symbol": "MARK3",
"gene_hgnc_id": 6897,
"dbsnp": "rs56134485",
"frequency_reference_population": 0.007983063,
"hom_count_reference_population": 949,
"allele_count_reference_population": 12885,
"gnomad_exomes_af": 0.00426596,
"gnomad_genomes_af": 0.043675,
"gnomad_exomes_ac": 6236,
"gnomad_genomes_ac": 6649,
"gnomad_exomes_homalt": 437,
"gnomad_genomes_homalt": 512,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03500000014901161,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.035,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.064,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001128918.3",
"gene_symbol": "MARK3",
"hgnc_id": 6897,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.1314C>A",
"hgvs_p": "p.Thr438Thr"
}
],
"clinvar_disease": "MARK3-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "MARK3-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}