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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: 14-77285548-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=77285548&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 77285548,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000261534.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "NM_013382.7",
"protein_id": "NP_037514.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 750,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "ENST00000261534.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "ENST00000261534.9",
"protein_id": "ENSP00000261534.4",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 750,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 4875,
"mane_select": "NM_013382.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "ENST00000682795.1",
"protein_id": "ENSP00000507574.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 799,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "ENST00000682247.1",
"protein_id": "ENSP00000507213.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 774,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 2729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "ENST00000682467.1",
"protein_id": "ENSP00000508062.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 703,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 1563,
"cdna_end": null,
"cdna_length": 4604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "ENST00000556394.2",
"protein_id": "ENSP00000451967.2",
"transcript_support_level": 3,
"aa_start": 320,
"aa_end": null,
"aa_length": 597,
"cds_start": 958,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486*",
"transcript": "XM_047431312.1",
"protein_id": "XP_047287268.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 826,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 5103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473*",
"transcript": "XM_011536675.3",
"protein_id": "XP_011534977.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 813,
"cds_start": 1417,
"cds_end": null,
"cds_length": 2442,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 5064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486*",
"transcript": "XM_047431313.1",
"protein_id": "XP_047287269.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 763,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 4914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1123C>T",
"hgvs_p": "p.Arg375*",
"transcript": "XM_047431314.1",
"protein_id": "XP_047287270.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 715,
"cds_start": 1123,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1573,
"cdna_end": null,
"cdna_length": 5018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.1456C>T",
"hgvs_p": "p.Arg486*",
"transcript": "XM_047431315.1",
"protein_id": "XP_047287271.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 685,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.997C>T",
"hgvs_p": "p.Arg333*",
"transcript": "XM_047431316.1",
"protein_id": "XP_047287272.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 673,
"cds_start": 997,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "XM_011536677.4",
"protein_id": "XP_011534979.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 660,
"cds_start": 958,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Arg287*",
"transcript": "XM_047431317.1",
"protein_id": "XP_047287273.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 627,
"cds_start": 859,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320*",
"transcript": "XM_047431318.1",
"protein_id": "XP_047287274.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 597,
"cds_start": 958,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1160,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171*",
"transcript": "XM_047431319.1",
"protein_id": "XP_047287275.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 511,
"cds_start": 511,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "c.511C>T",
"hgvs_p": "p.Arg171*",
"transcript": "XM_047431320.1",
"protein_id": "XP_047287276.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 448,
"cds_start": 511,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 820,
"cdna_end": null,
"cdna_length": 4076,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.1440C>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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.288C>T",
"hgvs_p": null,
"transcript": "ENST00000553880.5",
"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": 555,
"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": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.2203C>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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.409C>T",
"hgvs_p": null,
"transcript": "ENST00000554884.5",
"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": 549,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.56C>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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POMT2",
"gene_hgnc_id": 19743,
"hgvs_c": "n.507C>T",
"hgvs_p": null,
"transcript": "ENST00000557675.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"phylop100way_prediction": "Uncertain_significance",
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"clinvar_disease": " type A2, type B2,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": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P: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",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}