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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: 1-113700866-T-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113700866&ref=T&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113700866,
"ref": "T",
"alt": "TA",
"effect": "frameshift_variant",
"transcript": "NM_006608.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "NM_001323043.2",
"protein_id": "NP_001309972.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": "ENST00000369604.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323043.2"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "ENST00000369604.6",
"protein_id": "ENSP00000358617.1",
"transcript_support_level": 5,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 3657,
"mane_select": "NM_001323043.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369604.6"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "ENST00000393357.6",
"protein_id": "ENSP00000377025.2",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2425,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393357.6"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "NM_001323041.2",
"protein_id": "NP_001309970.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323041.2"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "NM_001323042.2",
"protein_id": "NP_001309971.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323042.2"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "NM_006608.3",
"protein_id": "NP_006599.2",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006608.3"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "ENST00000873091.1",
"protein_id": "ENSP00000543150.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2151,
"cdna_end": null,
"cdna_length": 4120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873091.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "ENST00000873092.1",
"protein_id": "ENSP00000543151.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 2954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873092.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs",
"transcript": "ENST00000873093.1",
"protein_id": "ENSP00000543152.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 762,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 3469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873093.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1967dupT",
"hgvs_p": "p.Leu656fs",
"transcript": "ENST00000930186.1",
"protein_id": "ENSP00000600245.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 760,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2114,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930186.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1952dupT",
"hgvs_p": "p.Leu651fs",
"transcript": "ENST00000873094.1",
"protein_id": "ENSP00000543153.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 755,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873094.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1847dupT",
"hgvs_p": "p.Leu616fs",
"transcript": "NM_001323044.2",
"protein_id": "NP_001309973.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 720,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2840,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323044.2"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1847dupT",
"hgvs_p": "p.Leu616fs",
"transcript": "NM_001323045.2",
"protein_id": "NP_001309974.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 720,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323045.2"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1844dupT",
"hgvs_p": "p.Leu615fs",
"transcript": "ENST00000969008.1",
"protein_id": "ENSP00000639067.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 719,
"cds_start": 1844,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969008.1"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1838dupT",
"hgvs_p": "p.Leu613fs",
"transcript": "ENST00000369598.5",
"protein_id": "ENSP00000358611.1",
"transcript_support_level": 5,
"aa_start": 613,
"aa_end": null,
"aa_length": 717,
"cds_start": 1838,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369598.5"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1814dupT",
"hgvs_p": "p.Leu605fs",
"transcript": "ENST00000369600.5",
"protein_id": "ENSP00000358613.1",
"transcript_support_level": 5,
"aa_start": 605,
"aa_end": null,
"aa_length": 709,
"cds_start": 1814,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369600.5"
},
{
"aa_ref": "L",
"aa_alt": "F?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "c.1115dupT",
"hgvs_p": "p.Leu372fs",
"transcript": "NM_001323046.2",
"protein_id": "NP_001309975.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 476,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 3268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323046.2"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.3124dupT",
"hgvs_p": null,
"transcript": "ENST00000474926.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000474926.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.394dupT",
"hgvs_p": null,
"transcript": "ENST00000481652.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 836,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000481652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.2666dupT",
"hgvs_p": null,
"transcript": "NR_136564.2",
"protein_id": null,
"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": 3907,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136564.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.2307dupT",
"hgvs_p": null,
"transcript": "NR_136565.2",
"protein_id": null,
"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": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136565.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.2582dupT",
"hgvs_p": null,
"transcript": "NR_136566.2",
"protein_id": null,
"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": 3823,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136566.2"
},
{
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"hgvs_c": "n.2467dupT",
"hgvs_p": null,
"transcript": "NR_136567.2",
"protein_id": null,
"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": 3708,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136567.2"
}
],
"gene_symbol": "PHTF1",
"gene_hgnc_id": 8939,
"dbsnp": "rs1168463464",
"frequency_reference_population": 0.000014897043,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157645,
"gnomad_genomes_af": 0.00000657531,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.29,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006608.3",
"gene_symbol": "PHTF1",
"hgnc_id": 8939,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1973dupT",
"hgvs_p": "p.Leu658fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}