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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: 14-77278803-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77278803&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77278803,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261534.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Pro653Leu",
"transcript": "NM_013382.7",
"protein_id": "NP_037514.2",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 750,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000261534.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Pro653Leu",
"transcript": "ENST00000261534.9",
"protein_id": "ENSP00000261534.4",
"transcript_support_level": 1,
"aa_start": 653,
"aa_end": null,
"aa_length": 750,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_013382.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.2105C>T",
"hgvs_p": "p.Pro702Leu",
"transcript": "ENST00000682795.1",
"protein_id": "ENSP00000507574.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 799,
"cds_start": 2105,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Pro500Leu",
"transcript": "ENST00000556394.2",
"protein_id": "ENSP00000451967.2",
"transcript_support_level": 3,
"aa_start": 500,
"aa_end": null,
"aa_length": 597,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1678,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.548C>T",
"hgvs_p": "p.Pro183Leu",
"transcript": "ENST00000556171.1",
"protein_id": "ENSP00000451651.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 191,
"cds_start": 548,
"cds_end": null,
"cds_length": 578,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.2186C>T",
"hgvs_p": "p.Pro729Leu",
"transcript": "XM_047431312.1",
"protein_id": "XP_047287268.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 826,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 2388,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.2147C>T",
"hgvs_p": "p.Pro716Leu",
"transcript": "XM_011536675.3",
"protein_id": "XP_011534977.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 813,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 2349,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1997C>T",
"hgvs_p": "p.Pro666Leu",
"transcript": "XM_047431313.1",
"protein_id": "XP_047287269.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 763,
"cds_start": 1997,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1853C>T",
"hgvs_p": "p.Pro618Leu",
"transcript": "XM_047431314.1",
"protein_id": "XP_047287270.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 715,
"cds_start": 1853,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.2047C>T",
"hgvs_p": "p.Arg683Cys",
"transcript": "XM_047431315.1",
"protein_id": "XP_047287271.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 685,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1727C>T",
"hgvs_p": "p.Pro576Leu",
"transcript": "XM_047431316.1",
"protein_id": "XP_047287272.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 673,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1688C>T",
"hgvs_p": "p.Pro563Leu",
"transcript": "XM_011536677.4",
"protein_id": "XP_011534979.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 660,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1890,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Pro530Leu",
"transcript": "XM_047431317.1",
"protein_id": "XP_047287273.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 627,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1499C>T",
"hgvs_p": "p.Pro500Leu",
"transcript": "XM_047431318.1",
"protein_id": "XP_047287274.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 597,
"cds_start": 1499,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1241C>T",
"hgvs_p": "p.Pro414Leu",
"transcript": "XM_047431319.1",
"protein_id": "XP_047287275.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 511,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1052C>T",
"hgvs_p": "p.Pro351Leu",
"transcript": "XM_047431320.1",
"protein_id": "XP_047287276.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 448,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1947C>T",
"hgvs_p": "p.Pro649Pro",
"transcript": "ENST00000682247.1",
"protein_id": "ENSP00000507213.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 774,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 2729,
"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": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.2934C>T",
"hgvs_p": null,
"transcript": "ENST00000452340.7",
"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": 5647,
"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": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.2744C>T",
"hgvs_p": null,
"transcript": "ENST00000554767.5",
"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": 5457,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.883C>T",
"hgvs_p": null,
"transcript": "ENST00000555134.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1530,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.*91C>T",
"hgvs_p": null,
"transcript": "ENST00000555710.1",
"protein_id": "ENSP00000451730.1",
"transcript_support_level": 4,
"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": 575,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.259C>T",
"hgvs_p": null,
"transcript": "ENST00000556446.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 556,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.173C>T",
"hgvs_p": null,
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"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000261534.9",
"gene_symbol": "POMT2",
"hgnc_id": 19743,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1958C>T",
"hgvs_p": "p.Pro653Leu"
}
],
"clinvar_disease": " type A2, type B2,Autosomal recessive limb-girdle muscular dystrophy,Autosomal recessive limb-girdle muscular dystrophy type 2N,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:3 US:4",
"phenotype_combined": "not provided|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2;Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2;Autosomal recessive limb-girdle muscular dystrophy type 2N|Autosomal recessive limb-girdle muscular dystrophy|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}