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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: 11-47438813-T-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47438813&ref=T&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47438813,
"ref": "T",
"alt": "TAG",
"effect": "frameshift_variant",
"transcript": "ENST00000298854.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1083_1084dupCT",
"hgvs_p": "p.Tyr362fs",
"transcript": "NM_005055.5",
"protein_id": "NP_005046.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 412,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": "ENST00000298854.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1083_1084dupCT",
"hgvs_p": "p.Tyr362fs",
"transcript": "ENST00000298854.7",
"protein_id": "ENSP00000298854.2",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 412,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": "NM_005055.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.906_907dupCT",
"hgvs_p": "p.Tyr303fs",
"transcript": "ENST00000352508.7",
"protein_id": "ENSP00000298853.3",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 353,
"cds_start": 907,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 1452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.906_907dupCT",
"hgvs_p": "p.Tyr303fs",
"transcript": "ENST00000529341.1",
"protein_id": "ENSP00000431732.1",
"transcript_support_level": 1,
"aa_start": 303,
"aa_end": null,
"aa_length": 353,
"cds_start": 907,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1219_1220dupCT",
"hgvs_p": "p.Leu408fs",
"transcript": "NM_001440490.1",
"protein_id": "NP_001427419.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 520,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 1758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1168_1169dupCT",
"hgvs_p": "p.Leu391fs",
"transcript": "NM_001440491.1",
"protein_id": "NP_001427420.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 503,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1083_1084dupCT",
"hgvs_p": "p.Tyr362fs",
"transcript": "NM_001440492.1",
"protein_id": "NP_001427421.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 412,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1256,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.886_887dupCT",
"hgvs_p": "p.Leu297fs",
"transcript": "NM_001440493.1",
"protein_id": "NP_001427422.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 409,
"cds_start": 887,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.1029_1030dupCT",
"hgvs_p": "p.Tyr344fs",
"transcript": "NM_001440495.1",
"protein_id": "NP_001427424.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 394,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.960_961dupCT",
"hgvs_p": "p.Tyr321fs",
"transcript": "NM_001440497.1",
"protein_id": "NP_001427426.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 371,
"cds_start": 961,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.960_961dupCT",
"hgvs_p": "p.Tyr321fs",
"transcript": "NM_001440498.1",
"protein_id": "NP_001427427.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 371,
"cds_start": 961,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.924_925dupCT",
"hgvs_p": "p.Tyr309fs",
"transcript": "NM_001440499.1",
"protein_id": "NP_001427428.1",
"transcript_support_level": null,
"aa_start": 309,
"aa_end": null,
"aa_length": 359,
"cds_start": 925,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.924_925dupCT",
"hgvs_p": "p.Tyr309fs",
"transcript": "ENST00000524487.5",
"protein_id": "ENSP00000435551.2",
"transcript_support_level": 5,
"aa_start": 309,
"aa_end": null,
"aa_length": 359,
"cds_start": 925,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.906_907dupCT",
"hgvs_p": "p.Tyr303fs",
"transcript": "NM_001440500.1",
"protein_id": "NP_001427429.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
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"cds_start": 907,
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"cdna_start": 1079,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.906_907dupCT",
"hgvs_p": "p.Tyr303fs",
"transcript": "NM_032645.5",
"protein_id": "NP_116034.2",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 353,
"cds_start": 907,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.870_871dupCT",
"hgvs_p": "p.Tyr291fs",
"transcript": "NM_001440502.1",
"protein_id": "NP_001427431.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 341,
"cds_start": 871,
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"cdna_start": 1043,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.801_802dupCT",
"hgvs_p": "p.Tyr268fs",
"transcript": "NM_001440503.1",
"protein_id": "NP_001427432.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 318,
"cds_start": 802,
"cds_end": null,
"cds_length": 957,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 1340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.744_745dupCT",
"hgvs_p": "p.Tyr249fs",
"transcript": "NM_001440504.1",
"protein_id": "NP_001427433.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 299,
"cds_start": 745,
"cds_end": null,
"cds_length": 900,
"cdna_start": 917,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.967-768_967-767dupCT",
"hgvs_p": null,
"transcript": "NM_001440494.1",
"protein_id": "NP_001427423.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.913-768_913-767dupCT",
"hgvs_p": null,
"transcript": "NM_001440496.1",
"protein_id": "NP_001427425.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "c.790-768_790-767dupCT",
"hgvs_p": null,
"transcript": "NM_001440501.1",
"protein_id": "NP_001427430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": -4,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"hgvs_c": "n.122-768_122-767dupCT",
"hgvs_p": null,
"transcript": "ENST00000528356.1",
"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": 405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC124902673",
"gene_hgnc_id": null,
"hgvs_c": "n.144+1049_144+1050dupAG",
"hgvs_p": null,
"transcript": "XR_007062669.1",
"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": 255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAPSN",
"gene_hgnc_id": 9863,
"dbsnp": "rs786205885",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.822,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000298854.7",
"gene_symbol": "RAPSN",
"hgnc_id": 9863,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1083_1084dupCT",
"hgvs_p": "p.Tyr362fs"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "XR_007062669.1",
"gene_symbol": "LOC124902673",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.144+1049_144+1050dupAG",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital myasthenic syndrome,Congenital myasthenic syndrome 11,Fetal akinesia deformation sequence 2,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Congenital myasthenic syndrome 11|not provided|Congenital myasthenic syndrome|Fetal akinesia deformation sequence 2;Congenital myasthenic syndrome 11",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}