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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: 7-100094340-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100094340&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100094340,
"ref": "G",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_005916.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "NM_005916.5",
"protein_id": "NP_005907.3",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 719,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000303887.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005916.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "ENST00000303887.10",
"protein_id": "ENSP00000307288.5",
"transcript_support_level": 1,
"aa_start": 561,
"aa_end": null,
"aa_length": 719,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005916.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303887.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.986-1224C>A",
"hgvs_p": null,
"transcript": "ENST00000343023.10",
"protein_id": "ENSP00000344006.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343023.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.2402C>A",
"hgvs_p": null,
"transcript": "ENST00000489841.6",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489841.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1729C>A",
"hgvs_p": "p.Arg577Ser",
"transcript": "ENST00000919122.1",
"protein_id": "ENSP00000589181.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 735,
"cds_start": 1729,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919122.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1675C>A",
"hgvs_p": "p.Arg559Ser",
"transcript": "ENST00000919119.1",
"protein_id": "ENSP00000589178.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 717,
"cds_start": 1675,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919119.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1672C>A",
"hgvs_p": "p.Arg558Ser",
"transcript": "ENST00000907652.1",
"protein_id": "ENSP00000577711.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 716,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907652.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1654C>A",
"hgvs_p": "p.Arg552Ser",
"transcript": "ENST00000919120.1",
"protein_id": "ENSP00000589179.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 710,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919120.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1636C>A",
"hgvs_p": "p.Arg546Ser",
"transcript": "ENST00000919124.1",
"protein_id": "ENSP00000589183.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 704,
"cds_start": 1636,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919124.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser",
"transcript": "ENST00000919123.1",
"protein_id": "ENSP00000589182.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 694,
"cds_start": 1681,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919123.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1597C>A",
"hgvs_p": "p.Arg533Ser",
"transcript": "ENST00000919121.1",
"protein_id": "ENSP00000589180.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 691,
"cds_start": 1597,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919121.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "NM_001439271.1",
"protein_id": "NP_001426200.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439271.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "NM_001439272.1",
"protein_id": "NP_001426201.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439272.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "NM_001439273.1",
"protein_id": "NP_001426202.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439273.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000425308.6",
"protein_id": "ENSP00000411295.2",
"transcript_support_level": 3,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425308.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000710813.1",
"protein_id": "ENSP00000518500.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710813.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Arg454Ser",
"transcript": "ENST00000710815.1",
"protein_id": "ENSP00000518502.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 612,
"cds_start": 1360,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710815.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Arg385Ser",
"transcript": "NM_001278595.2",
"protein_id": "NP_001265524.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 543,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278595.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "c.1153C>A",
"hgvs_p": "p.Arg385Ser",
"transcript": "NM_182776.3",
"protein_id": "NP_877577.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 543,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182776.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.2293C>A",
"hgvs_p": null,
"transcript": "ENST00000485286.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000485286.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.280C>A",
"hgvs_p": null,
"transcript": "ENST00000493352.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000493352.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"hgvs_c": "n.1360C>A",
"hgvs_p": null,
"transcript": "ENST00000710814.1",
"protein_id": "ENSP00000518501.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000710814.1"
}
],
"gene_symbol": "MCM7",
"gene_hgnc_id": 6950,
"dbsnp": "rs755556849",
"frequency_reference_population": 6.841564e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84156e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.821711540222168,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.33399999141693115,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.479,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7296,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.28,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.540088462779953,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005916.5",
"gene_symbol": "MCM7",
"hgnc_id": 6950,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1681C>A",
"hgvs_p": "p.Arg561Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}