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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: 2-71568027-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71568027&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71568027,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001130987.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 2119,
"cds_start": 2642,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130987.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 881,
"aa_end": null,
"aa_length": 2119,
"cds_start": 2642,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410020.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2588A>C",
"hgvs_p": "p.Asp863Ala",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 2080,
"cds_start": 2588,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": "protein_coding",
"feature": "NM_003494.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2588A>C",
"hgvs_p": "p.Asp863Ala",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 2080,
"cds_start": 2588,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": "protein_coding",
"feature": "ENST00000258104.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2639A>C",
"hgvs_p": "p.Asp880Ala",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 2118,
"cds_start": 2639,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409582.7"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2684A>C",
"hgvs_p": "p.Asp895Ala",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 895,
"aa_end": null,
"aa_length": 2112,
"cds_start": 2684,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409651.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2681A>C",
"hgvs_p": "p.Asp894Ala",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 2111,
"cds_start": 2681,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 2958,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413539.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2591A>C",
"hgvs_p": "p.Asp864Ala",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 2102,
"cds_start": 2591,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409366.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2588A>C",
"hgvs_p": "p.Asp863Ala",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 863,
"aa_end": null,
"aa_length": 2101,
"cds_start": 2588,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429174.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 881,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2642,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410041.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2639A>C",
"hgvs_p": "p.Asp880Ala",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 2097,
"cds_start": 2639,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 2916,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409762.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2549A>C",
"hgvs_p": "p.Asp850Ala",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 2088,
"cds_start": 2549,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409744.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2591A>C",
"hgvs_p": "p.Asp864Ala",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 864,
"aa_end": null,
"aa_length": 2081,
"cds_start": 2591,
"cds_end": null,
"cds_length": 6246,
"cdna_start": 2732,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394120.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2639A>C",
"hgvs_p": "p.Asp880Ala",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 2118,
"cds_start": 2639,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 7066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130981.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala",
"transcript": "ENST00000873665.1",
"protein_id": "ENSP00000543724.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 2114,
"cds_start": 2642,
"cds_end": null,
"cds_length": 6345,
"cdna_start": 2756,
"cdna_end": null,
"cdna_length": 6730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873665.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2684A>C",
"hgvs_p": "p.Asp895Ala",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 2112,
"cds_start": 2684,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130982.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2681A>C",
"hgvs_p": "p.Asp894Ala",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 2111,
"cds_start": 2681,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 7045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130979.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2591A>C",
"hgvs_p": "p.Asp864Ala",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 2102,
"cds_start": 2591,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 2735,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130983.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2588A>C",
"hgvs_p": "p.Asp863Ala",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 863,
"aa_end": null,
"aa_length": 2101,
"cds_start": 2588,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 3026,
"cdna_end": null,
"cdna_length": 7015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130978.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
"transcript_support_level": null,
"aa_start": 881,
"aa_end": null,
"aa_length": 2098,
"cds_start": 2642,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 2786,
"cdna_end": null,
"cdna_length": 6712,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130985.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2639A>C",
"hgvs_p": "p.Asp880Ala",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 2097,
"cds_start": 2639,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 3077,
"cdna_end": null,
"cdna_length": 7003,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130980.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.2549A>C",
"hgvs_p": "p.Asp850Ala",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
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{
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],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs35884879",
"frequency_reference_population": 0.00097392336,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1572,
"gnomad_exomes_af": 0.000519197,
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"gnomad_exomes_ac": 759,
"gnomad_genomes_ac": 813,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009132832288742065,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4227,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.476,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001130987.2",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2642A>C",
"hgvs_p": "p.Asp881Ala"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2B,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "not specified|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2B",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}