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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: 6-97178519-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=97178519&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 97178519,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000683635.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "NM_001350599.2",
"protein_id": "NP_001337528.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 8574,
"mane_select": "ENST00000683635.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "ENST00000683635.1",
"protein_id": "ENSP00000508046.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 8574,
"mane_select": "NM_001350599.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "NM_198468.4",
"protein_id": "NP_940870.2",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2909,
"cdna_end": null,
"cdna_length": 8683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "ENST00000275053.8",
"protein_id": "ENSP00000275053.4",
"transcript_support_level": 2,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2869,
"cdna_end": null,
"cdna_length": 8643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "ENST00000369251.6",
"protein_id": "ENSP00000358254.2",
"transcript_support_level": 2,
"aa_start": 828,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3612,
"cdna_start": 2559,
"cdna_end": null,
"cdna_length": 3949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1754G>T",
"hgvs_p": "p.Ser585Ile",
"transcript": "NM_001350600.2",
"protein_id": "NP_001337529.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 960,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 8514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_011535670.3",
"protein_id": "XP_011533972.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2800,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_011535671.4",
"protein_id": "XP_011533973.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 4877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_011535672.4",
"protein_id": "XP_011533974.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 4844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_011535674.4",
"protein_id": "XP_011533976.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 3363,
"cdna_end": null,
"cdna_length": 5389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_047418574.1",
"protein_id": "XP_047274530.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2851,
"cdna_end": null,
"cdna_length": 8625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile",
"transcript": "XM_047418575.1",
"protein_id": "XP_047274531.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1243,
"cds_start": 2603,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 2818,
"cdna_end": null,
"cdna_length": 8592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "XM_011535675.3",
"protein_id": "XP_011533977.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2483,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 4707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "XM_047418576.1",
"protein_id": "XP_047274532.1",
"transcript_support_level": null,
"aa_start": 828,
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"cds_start": 2483,
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"cdna_start": 2731,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "XM_047418577.1",
"protein_id": "XP_047274533.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2483,
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"cds_length": 3612,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 8454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "XM_047418578.1",
"protein_id": "XP_047274534.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
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"cds_start": 2483,
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"cdna_start": 2698,
"cdna_end": null,
"cdna_length": 8472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Ser828Ile",
"transcript": "XM_047418579.1",
"protein_id": "XP_047274535.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 1203,
"cds_start": 2483,
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"cds_length": 3612,
"cdna_start": 2731,
"cdna_end": null,
"cdna_length": 8505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1925G>T",
"hgvs_p": "p.Ser642Ile",
"transcript": "XM_011535676.4",
"protein_id": "XP_011533978.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 1035,
"cds_start": 1925,
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"cds_length": 3108,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1925G>T",
"hgvs_p": "p.Ser642Ile",
"transcript": "XM_047418580.1",
"protein_id": "XP_047274536.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
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"cds_start": 1925,
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"cdna_start": 2352,
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"cdna_length": 4385,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1721G>T",
"hgvs_p": "p.Ser574Ile",
"transcript": "XM_011535678.4",
"protein_id": "XP_011533980.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 967,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1916,
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"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1394G>T",
"hgvs_p": "p.Ser465Ile",
"transcript": "XM_011535679.4",
"protein_id": "XP_011533981.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 858,
"cds_start": 1394,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 3513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MMS22L",
"gene_hgnc_id": 21475,
"hgvs_c": "c.1046G>T",
"hgvs_p": "p.Ser349Ile",
"transcript": "XM_011535680.4",
"protein_id": "XP_011533982.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 742,
"cds_start": 1046,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 2652,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
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}
],
"gene_symbol": "MMS22L",
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.98225e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08533158898353577,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.1026,
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.531,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000683635.1",
"gene_symbol": "MMS22L",
"hgnc_id": 21475,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2603G>T",
"hgvs_p": "p.Ser868Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}