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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: 12-50992810-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50992810&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50992810,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000262052.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_000617.3",
"protein_id": "NP_000608.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": "ENST00000262052.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "ENST00000262052.9",
"protein_id": "ENSP00000262052.5",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": "NM_000617.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Glu428Asp",
"transcript": "ENST00000394904.9",
"protein_id": "ENSP00000378364.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 590,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "ENST00000547198.5",
"protein_id": "ENSP00000446769.1",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 568,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 2486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "ENST00000541174.6",
"protein_id": "ENSP00000444542.2",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Glu395Asp",
"transcript": "ENST00000545993.7",
"protein_id": "ENSP00000442810.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 557,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 1958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.960G>C",
"hgvs_p": "p.Glu320Asp",
"transcript": "ENST00000546743.5",
"protein_id": "ENSP00000446914.1",
"transcript_support_level": 1,
"aa_start": 320,
"aa_end": null,
"aa_length": 482,
"cds_start": 960,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "n.1197G>C",
"hgvs_p": null,
"transcript": "ENST00000546636.5",
"protein_id": "ENSP00000449008.1",
"transcript_support_level": 1,
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Glu428Asp",
"transcript": "NM_001379446.1",
"protein_id": "NP_001366375.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 597,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Glu428Asp",
"transcript": "ENST00000547688.7",
"protein_id": "ENSP00000449200.2",
"transcript_support_level": 5,
"aa_start": 428,
"aa_end": null,
"aa_length": 597,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Glu428Asp",
"transcript": "NM_001174125.2",
"protein_id": "NP_001167596.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 590,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1284G>C",
"hgvs_p": "p.Glu428Asp",
"transcript": "NM_001379455.1",
"protein_id": "NP_001366384.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 590,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 4668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1233G>C",
"hgvs_p": "p.Glu411Asp",
"transcript": "ENST00000643884.1",
"protein_id": "ENSP00000493633.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 573,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 3810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001174126.2",
"protein_id": "NP_001167597.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 568,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001174127.2",
"protein_id": "NP_001167598.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 568,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 3757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001379447.2",
"protein_id": "NP_001366376.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 568,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "ENST00000644495.1",
"protein_id": "ENSP00000494107.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 568,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1310,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1185G>C",
"hgvs_p": "p.Glu395Asp",
"transcript": "NM_001379448.1",
"protein_id": "NP_001366377.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 564,
"cds_start": 1185,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001174128.2",
"protein_id": "NP_001167599.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001174129.2",
"protein_id": "NP_001167600.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 4667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001414744.1",
"protein_id": "NP_001401673.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1305,
"cdna_end": null,
"cdna_length": 3839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1197G>C",
"hgvs_p": "p.Glu399Asp",
"transcript": "NM_001414745.1",
"protein_id": "NP_001401674.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 561,
"cds_start": 1197,
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],
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"dbsnp": "rs121918365",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.8412e-7,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.7373273372650146,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.693,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.249,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.49,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999903053581897,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP5"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "Microcytic anemia with liver iron overload",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Microcytic anemia with liver iron overload",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}